rs148469698
- Uncertain significance
Your Genotype
Sign InDescription
This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 172 of the SAMD11 protein (p.Pro172Leu). This variant is present in population databases (rs148469698, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SAMD11-related conditions. ClinVar contains an entry for this variant (Variation ID: 946008). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Reference Allele
C
Alternative Allele
G
T
Chromosome
1
Location
939124
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001385641.1(SAMD11):c.1052C>T (p.Pro351Leu)
Allele
T
Clinical Significance
Uncertain significance