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 2018-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 904 (p.Arg904*). It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs80338931, ExAC 0.02%). Truncating variants in SH3TC2 are known to be pathogenic. This particular truncation has been reported in the literature in several individuals, and at least 2 families with Charcot Marie Tooth Type 4C. (PMID: 16924012 26392352 25737037). This variant is reported in trans with another pathogenic variant (p.Arg954*) in an affected proband and 4 siblings (PMID:25737037). 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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