ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.17221A>G (p.Ile5741Val)

gnomAD frequency: 0.00001  dbSNP: rs535045295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002425025 SCV002729506 uncertain significance Inborn genetic diseases 2021-01-21 criteria provided, single submitter clinical testing The p.I3622V variant (also known as c.10864A>G), located in coding exon 59 of the DST gene, results from an A to G substitution at nucleotide position 10864. The isoleucine at codon 3622 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Clinical Genetics, Academic Medical Center RCV001700573 SCV001920031 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700573 SCV001967243 uncertain significance not provided no assertion criteria provided clinical testing

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