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 2015-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 71 (p.Gln71*). It 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: 25614874). For these reasons, this variant has been classified as Pathogenic.

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