ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.211C>T (p.Gln71Ter) (rs864622663)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203755 SCV000261685 pathogenic Charcot-Marie-Tooth disease type 4 2019-11-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln71*) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 30373780, Invitae). ClinVar contains an entry for this variant (Variation ID: 220821). 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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