ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1255C>A (p.Pro419Thr)

dbSNP: rs62635763
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546121 SCV000654167 uncertain significance Desmin-related myofibrillar myopathy 2022-06-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 419 of the DES protein (p.Pro419Thr). This variant is not present in population databases (gnomAD no frequency). 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: 474285). This variant disrupts the p.Pro419 amino acid residue in DES. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17418574, 21676617, 22395865, 23639843). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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