ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.730C>T (p.Gln244Ter) (rs1463786931)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778758 SCV000915123 uncertain significance SH3TC2-Related Disorders 2018-02-09 criteria provided, single submitter clinical testing The SH3TC2 c.730C>T (p.Gln244Ter) variant is a stop-gained variant that is predicted to result in premature termination of the protein. It has not been reported in the peer-reviewed literature and is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database despite good coverage of the genomic region. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this 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.

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