ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.973G>T (p.Gly325Cys)

dbSNP: rs760106114
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948446 SCV002204762 uncertain significance Charcot-Marie-Tooth disease type 2 2024-04-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 261 of the BSCL2 protein (p.Gly261Cys). This variant is present in population databases (rs760106114, gnomAD 0.003%). This missense change has been observed in individual(s) with autosomal dominant BSCL2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1430833). 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 BSCL2 protein function with a negative predictive value of 80%. 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.

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