ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.508G>T (p.Val170Phe)

dbSNP: rs748095370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002535809 SCV003445256 uncertain significance Charcot-Marie-Tooth Neuropathy X 2024-10-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 170 of the GJB1 protein (p.Val170Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of GJB1-related conditions (PMID: 24768312). ClinVar contains an entry for this variant (Variation ID: 637610). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GJB1 protein function. 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.
Inherited Neuropathy Consortium RCV000789869 SCV000929254 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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