ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.23348G>C (p.Arg7783Thr)

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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 RCV002406158 SCV002710876 uncertain significance Inborn genetic diseases 2022-07-18 criteria provided, single submitter clinical testing The p.R5640T variant (also known as c.16919G>C), located in coding exon 97 of the DST gene, results from a G to C substitution at nucleotide position 16919. The arginine at codon 5640 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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.
Invitae RCV003774464 SCV004573601 likely benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2023-08-08 criteria provided, single submitter clinical testing

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