ClinVar Miner

Submissions for variant NM_001927.4(DES):c.844G>A (p.Glu282Lys)

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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 RCV002447534 SCV002680597 uncertain significance Cardiovascular phenotype 2022-05-09 criteria provided, single submitter clinical testing The p.E282K variant (also known as c.844G>A), located in coding exon 4 of the DES gene, results from a G to A substitution at nucleotide position 844. The glutamic acid at codon 282 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003776506 SCV004590762 uncertain significance Desmin-related myofibrillar myopathy 2023-01-18 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1763432). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 282 of the DES protein (p.Glu282Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DES-related conditions.

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