ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) (rs80338931)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205920 SCV000261803 pathogenic Charcot-Marie-Tooth disease type 4 2019-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg904*) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 16924012, 26392352, 25737037, 29321516). It has also been observed to segregate with disease in related individuals. Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000020894 SCV000041490 pathologic Charcot-Marie-Tooth disease, type 4C 2008-03-31 no assertion criteria provided curation Converted during submission to Pathogenic.

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