ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.23432A>G (p.Lys7811Arg)

gnomAD frequency: 0.00032  dbSNP: rs201891015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242561 SCV001415656 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2022-08-21 criteria provided, single submitter clinical testing The DST gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_015548.4, and corresponds to NM_001723.5:c.*156487A>G in the primary transcript. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 5164 of the DST protein (p.Lys5164Arg). This variant is present in population databases (rs201891015, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with DST-related conditions. ClinVar contains an entry for this variant (Variation ID: 967605). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002402769 SCV002714145 uncertain significance Inborn genetic diseases 2022-07-08 criteria provided, single submitter clinical testing The p.K5668R variant (also known as c.17003A>G), located in coding exon 97 of the DST gene, results from an A to G substitution at nucleotide position 17003. The lysine at codon 5668 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, arginine is the reference amino acid in other 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.

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