ClinVar Miner

Submissions for variant NM_001927.4(DES):c.212C>T (p.Ala71Val)

gnomAD frequency: 0.00002  dbSNP: rs759235186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208029 SCV000263828 uncertain significance Cardiomyopathy 2015-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001297826 SCV001486860 uncertain significance Desmin-related myofibrillar myopathy 2024-02-29 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 71 of the DES protein (p.Ala71Val). This variant is present in population databases (rs759235186, gnomAD 0.004%). 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: 222541). 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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