ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.3168C>A (p.Asp1056Glu)

gnomAD frequency: 0.00031  dbSNP: rs147124522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223581 SCV001395737 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 519 of the DST protein (p.Asp519Glu). This variant is present in population databases (rs147124522, gnomAD 0.08%). 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: 951621). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
GeneDx RCV002508298 SCV002817625 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV003163742 SCV003882147 uncertain significance Inborn genetic diseases 2023-03-09 criteria provided, single submitter clinical testing The c.3069C>A (p.D1023E) alteration is located in exon 23 (coding exon 23) of the DST gene. This alteration results from a C to A substitution at nucleotide position 3069, causing the aspartic acid (D) at amino acid position 1023 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV002508298 SCV005189084 uncertain significance not provided criteria provided, single submitter not provided

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