ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1103C>T (p.Ala368Val)

gnomAD frequency: 0.00001  dbSNP: rs371830218
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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 RCV001049965 SCV001214048 uncertain significance Desmin-related myofibrillar myopathy 2024-10-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 368 of the DES protein (p.Ala368Val). This variant is present in population databases (rs371830218, gnomAD 0.007%). 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: 846623). 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 RCV002429640 SCV002742982 uncertain significance Cardiovascular phenotype 2021-12-20 criteria provided, single submitter clinical testing The p.A368V variant (also known as c.1103C>T), located in coding exon 6 of the DES gene, results from a C to T substitution at nucleotide position 1103. The alanine at codon 368 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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 RCV003145294 SCV003829034 uncertain significance not provided 2020-03-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003145294 SCV005188303 uncertain significance not provided criteria provided, single submitter not provided

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