ClinVar Miner

Submissions for variant NM_001927.4(DES):c.602A>G (p.Lys201Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002358149 SCV002660442 uncertain significance Cardiovascular phenotype 2021-09-14 criteria provided, single submitter clinical testing The p.K201R variant (also known as c.602A>G), located in coding exon 2 of the DES gene, results from an A to G substitution at nucleotide position 602. The lysine at codon 201 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Athena Diagnostics RCV002473371 SCV002770671 uncertain significance not provided 2022-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003776206 SCV004569008 uncertain significance Desmin-related myofibrillar myopathy 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 201 of the DES protein (p.Lys201Arg). This variant is present in population databases (rs760744645, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DES-related conditions. ClinVar contains an entry for this variant (Variation ID: 1751162). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DES protein function with a negative predictive value of 80%. 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.

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