rs1641817090
- Uncertain significance
Your Genotype
Sign InDescription
This sequence change replaces arginine with methionine at codon 314 of the SAMD11 protein (p.Arg314Met). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SAMD11-related conditions. 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
G
Alternative Allele
T
Chromosome
1
Location
942207
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001385641.1(SAMD11):c.1430G>T (p.Arg477Met)
Allele
T
Clinical Significance
Uncertain significance