ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039536 SCV001203068 likely pathogenic Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-01-30 criteria provided, single submitter clinical testing This variant, c.1027_1032dup, results in the insertion of 2 amino acid(s) to the DES protein (p.Asp343_Ser344dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of autosomal dominant myofibrillar myopathy (Invitae). In at least one individual the variant was observed to be de novo. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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