ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1662del (p.Ile555fs) (rs863224520)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198786 SCV000253932 pathogenic Charcot-Marie-Tooth disease type 4 2015-04-21 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 11 of the SH3TC2 mRNA (c.1662delC), causing a frameshift at codon 555. This creates a premature translational stop signal (p.Ile555Serfs*26) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in SH3TC2 are known to be pathogenic (PMID: 14574644, 19805030).

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