ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter) (rs80338932)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223054 SCV001395186 pathogenic Charcot-Marie-Tooth disease type 4 2019-07-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr943*) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs80338932, ExAC 0.002%). This variant has been observed to segregate with autosomal recessive Charcot-Marie-Tooth disease in a family (PMID: 14574644). ClinVar contains an entry for this variant (Variation ID: 2481). 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. Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002585 SCV000022743 pathogenic Charcot-Marie-Tooth disease, type 4C 2003-11-01 no assertion criteria provided literature only
GeneReviews RCV000002585 SCV000041491 pathologic Charcot-Marie-Tooth disease, type 4C 2008-03-31 no assertion criteria provided curation Converted during submission to Pathogenic.

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