ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg)

dbSNP: rs1754096264
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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 RCV001173154 SCV001336231 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004768887 SCV005381558 uncertain significance not specified 2024-08-02 criteria provided, single submitter clinical testing Variant summary: SH3TC2 c.2036T>G (p.Leu679Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251260 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2036T>G in individuals affected with Charcot-Marie Disease Type 4C and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 916950). Based on the evidence outlined above, the variant was classified as uncertain significance.

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