ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)

dbSNP: rs1754319130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173152 SCV001336229 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873610 SCV002181504 pathogenic Charcot-Marie-Tooth disease type 4 2021-04-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SH3TC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 916949). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Lys284Argfs*3) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304).

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