rs781879374
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Variant identified in proband and mother. Variant interpreted as Uncertain significance and reported on 12-03-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Reference Allele
C
Alternative Allele
A
Chromosome
X
Location
154366336
Variant Type
SNP
Genes
ClinVar
Name
NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn)
Allele
A
Clinical Significance
Conflicting interpretations of pathogenicity