ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.21538A>G (p.Met7180Val)

gnomAD frequency: 0.00141  dbSNP: rs200006386
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311719 SCV001502009 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing DST: BS2
Invitae RCV001400269 SCV001602073 likely benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395661 SCV002709851 uncertain significance Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing The p.M5061V variant (also known as c.15181A>G), located in coding exon 85 of the DST gene, results from an A to G substitution at nucleotide position 15181. The methionine at codon 5061 is replaced by valine, 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.
PreventionGenetics, part of Exact Sciences RCV003938623 SCV004760934 likely benign DST-related disorder 2023-04-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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