ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) (rs864309709)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203275 SCV000256749 likely pathogenic Charcot-Marie-Tooth disease, type 4C 2013-03-11 criteria provided, single submitter research Additional SH3TC2 variant identified likely contributes to the CMT phenotype in the proband
Invitae RCV001045169 SCV001209005 pathogenic Charcot-Marie-Tooth disease type 4 2019-11-21 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the SH3TC2 mRNA. The next in-frame methionine is located at codon 90. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 23806086). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 218918). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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