ClinVar Miner

Submissions for variant NM_001927.4(DES):c.2T>C (p.Met1Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377481 SCV001574822 likely pathogenic Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-06-29 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the DES mRNA. The next in-frame methionine is located at codon 263. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DES-related conditions. This variant disrupts the initiator methionine in DES. If translation initiates from the next-in-frame methionine, the DES protein would no longer include the region containing p.Ser12 amino acid residue. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20696008, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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