ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.805+2T>C

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092868 SCV001249582 pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
Invitae RCV001216729 SCV001388540 pathogenic Charcot-Marie-Tooth disease type 4 2019-06-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the SH3TC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in the homozygous state in individuals affected with Charcot-Marie-Tooth disease (PMID: 27231023). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001092868 SCV001447849 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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