ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702693 SCV000831556 pathogenic Charcot-Marie-Tooth disease type 4 2018-05-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1199*) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs761972717, ExAC 0.01%). This variant has not been reported in the literature in individuals with SH3TC2-related disease. Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304). For these reasons, this variant has been classified as Pathogenic.

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