ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.524del (p.Gln175fs) (rs1561770179)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778759 SCV000915124 uncertain significance SH3TC2-Related Disorders 2018-10-15 criteria provided, single submitter clinical testing The SH3TC2 c.524delA (p.Gln175ArgfsTer13) variant results in a frameshift and is predicted to result in premature termination of the protein. The p.Gln175ArgfsTer13 variant has been reported in the literature in an individual with Charcot-Marie-Tooth disease (DiVincenzo et al. 2014). The zygosity of the variant was not explicitly stated in the paper. This variant has not been reported in individuals with mononeuropathy of the median nerve. The p.Gln175ArgfsTer13 variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database. Due to the potential impact of frameshift variants, the p.Gln175ArgfsTer13 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 RCV000789566 SCV000928922 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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