ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1090C>A (p.Gln364Lys)

dbSNP: rs1224165687
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001349920 SCV001544287 uncertain significance Desmin-related myofibrillar myopathy 2024-06-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 364 of the DES protein (p.Gln364Lys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1045499). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DES 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.
Revvity Omics, Revvity RCV003145601 SCV003829027 uncertain significance not provided 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169728 SCV003856705 uncertain significance Cardiovascular phenotype 2023-02-28 criteria provided, single submitter clinical testing The p.Q364K variant (also known as c.1090C>A), located in coding exon 6 of the DES gene, results from a C to A substitution at nucleotide position 1090. The glutamine at codon 364 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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.

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