Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000425572 | SCV000521267 | pathogenic | not provided | 2021-12-13 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29627640, 21107784, 9055797, 10737979, 29687021, 32959227, 33179255, 8664899, 26310628, 20461396) |
3billion | RCV001807729 | SCV002058370 | likely pathogenic | Dejerine-Sottas disease | 2022-01-03 | criteria provided, single submitter | clinical testing | Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic (ClinVar ID: VCV000014172, PMID:8664899, PS1). The variant has been previously reported as assumed (i.e. paternity and maternity not confirmed) de novo in at least one similarly affected unrelated individual (PMID_8664899, PM6_M). A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000861910, PMID:8797476,22018721,30340945, PM5_M). A missense variant is a common mechanism associated with Dejerine-Sottas disease (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
OMIM | RCV000015235 | SCV000035494 | pathogenic | Charcot-Marie-Tooth disease type 1B | 1996-01-01 | no assertion criteria provided | literature only |