ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)

dbSNP: rs1580901350
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001048825 SCV001212849 pathogenic Charcot-Marie-Tooth disease type 4 2024-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln460*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 25614874). ClinVar contains an entry for this variant (Variation ID: 637510). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001171314 SCV001334044 pathogenic Charcot-Marie-Tooth disease type 4C 2020-02-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501035 SCV002801229 likely pathogenic Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild 2021-08-24 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789719 SCV000929095 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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