ClinVar Miner

Submissions for variant NM_001927.4(DES):c.709G>T (p.Ala237Ser)

dbSNP: rs397516697
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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 RCV001945264 SCV002189731 uncertain significance Desmin-related myofibrillar myopathy 2025-01-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 237 of the DES protein (p.Ala237Ser). This variant is present in population databases (no rsID available, gnomAD 0.008%). 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: 1414330). Invitae Evidence 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 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.
Ambry Genetics RCV002361228 SCV002664129 uncertain significance Cardiovascular phenotype 2021-09-20 criteria provided, single submitter clinical testing The p.A237S variant (also known as c.709G>T), located in coding exon 3 of the DES gene, results from a G to T substitution at nucleotide position 709. The alanine at codon 237 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003490937 SCV004234307 uncertain significance not provided 2023-05-17 criteria provided, single submitter clinical testing

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