ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys)

gnomAD frequency: 0.00002  dbSNP: rs778936762
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300966 SCV001490119 likely benign Charcot-Marie-Tooth disease type 4 2023-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409010 SCV002714094 uncertain significance Inborn genetic diseases 2022-03-20 criteria provided, single submitter clinical testing The p.R605C variant (also known as c.1813C>T), located in coding exon 11 of the SH3TC2 gene, results from a C to T substitution at nucleotide position 1813. The arginine at codon 605 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genesis Genome Database RCV000857150 SCV000999731 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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