Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000642670 | SCV000764357 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 184 of the SGCB protein (p.Tyr184Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 10660328, 30764848; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 534948). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SGCB protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000642670 | SCV000789305 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2017-01-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001726283 | SCV001962566 | likely pathogenic | not provided | 2021-08-01 | criteria provided, single submitter | clinical testing |