ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1868_1869del (p.Gly623fs) (rs1554121691)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553453 SCV000657906 pathogenic Charcot-Marie-Tooth disease type 4 2017-03-01 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 11 of the SH3TC2 mRNA (c.1868_1869delGG), causing a frameshift at codon 623. This creates a premature translational stop signal (p.Gly623Aspfs*47) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 14574644). For these reasons, this variant has been classified as Pathogenic.

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