ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.205T>C (p.Phe69Leu)

dbSNP: rs1602348917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002536914 SCV003445254 pathogenic Charcot-Marie-Tooth Neuropathy X 2022-04-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 637244). This missense change has been observed in individuals with Charcot-Marie-Tooth disease (PMID: 10923043, 17100997, 29998508). It has also been observed to segregate with disease in related individuals. This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 69 of the GJB1 protein (p.Phe69Leu).
Inherited Neuropathy Consortium RCV000789315 SCV000928668 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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