ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.3472dup (p.Val1158fs)

dbSNP: rs2127392454
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, Department of Biology, Semnan University RCV002271982 SCV002555587 likely pathogenic Charcot-Marie-Tooth disease type 4C 2018-06-06 criteria provided, single submitter case-control The WES analysis identified a frameshift mutation in the SH3TC2 gene on chromosome5 (NM_024577.4); chr5:149008856dupG c.3472dupG:p.V1158fs. The mutation was predicted to be likely pathogenic based on ACMG guidelines. Our review of the public resources, local population database, and the literature revealed that there is no previous publication describing this mutation.
Fulgent Genetics, Fulgent Genetics RCV005032210 SCV005668518 likely pathogenic Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild 2024-04-09 criteria provided, single submitter clinical testing

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