ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.259C>G (p.Pro87Ala) (rs587777877)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042343 SCV001206020 pathogenic Charcot-Marie-Tooth Neuropathy X 2019-11-04 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 87 of the GJB1 protein (p.Pro87Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individual(s) with X-linked Charcot-Marie-Tooth disease (PMID: 8990008, 19062535, 25802885). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 155724). This variant has been reported to have conflicting or insufficient data to determine the effect on GJB1 protein function (PMID: 9354338). For these reasons, this variant has been classified as Pathogenic.
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143793 SCV000188685 pathogenic Charcot-Marie-Tooth Neuropathy X Type 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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