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
Invitae RCV002535809 SCV003445256 uncertain significance Charcot-Marie-Tooth Neuropathy X 2022-01-05 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 637610). This missense change has been observed in individual(s) with clinical features of GJB1-related conditions (PMID: 24768312). This variant is not present in population databases (gnomAD no frequency). 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).
Inherited Neuropathy Consortium RCV000789869 SCV000929254 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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