ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.11866G>C (p.Glu3956Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002351706 SCV002651083 uncertain significance Inborn genetic diseases 2020-08-19 criteria provided, single submitter clinical testing The p.E1837Q variant (also known as c.5509G>C), located in coding exon 40 of the DST gene, results from a G to C substitution at nucleotide position 5509. The glutamic acid at codon 1837 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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