ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) (rs749850181)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000214436 SCV000279618 pathogenic not provided 2015-12-04 criteria provided, single submitter clinical testing The E462X nonsense variant in the SH3TC2 gene has been reported previously in association with Charcot-Marie-Tooth disease (DiVincenzo et al., 2014). The E462X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Illumina Clinical Services Laboratory,Illumina RCV000778757 SCV000915122 uncertain significance SH3TC2-Related Disorders 2017-09-14 criteria provided, single submitter clinical testing The SH3TC2 c.1384G>T (p.Glu462Ter) variant is a stop-gained variant and has been identified in one individual with suspected symptoms of Charcot-Marie-Tooth, type 4; however, there is no information on zygosity (DiVincenzo et al. 2014). There are no publications to date regarding the p.Glu462Ter variant and mononeuropathy of the median nerve. Control data are unavailable for this variant, which is reported at a frequency of 0.00003 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the limited evidence and the potential impact of stop-gained variants, the p.Glu462Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for SH3TC2-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Inherited Neuropathy Consortium RCV000789720 SCV000929096 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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