ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.109T>C (p.Cys37Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002455590 SCV002738322 uncertain significance Inborn genetic diseases 2022-03-11 criteria provided, single submitter clinical testing The p.C37R variant (also known as c.109T>C), located in coding exon 1 of the DST gene, results from a T to C substitution at nucleotide position 109. The cysteine at codon 37 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV002512196 SCV002821383 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing DST: PM2, PP3

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