ClinVar Miner

Submissions for variant NM_001927.4(DES):c.694C>T (p.Leu232Phe)

gnomAD frequency: 0.00001  dbSNP: rs764764823
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651541 SCV000773395 uncertain significance Desmin-related myofibrillar myopathy 2024-11-04 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 232 of the DES protein (p.Leu232Phe). This variant is present in population databases (rs764764823, gnomAD 0.02%). This missense change has been observed in individual(s) with DES-related conditions (PMID: 31983221). ClinVar contains an entry for this variant (Variation ID: 541301). 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.
Revvity Omics, Revvity RCV003144447 SCV003829052 uncertain significance not provided 2021-03-24 criteria provided, single submitter clinical testing

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