ClinVar Miner

Submissions for variant NC_000002.11:g.(?_220286089)_(220292091_?)del

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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 RCV004583679 SCV005063304 uncertain significance Desmin-related myofibrillar myopathy 2023-05-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DES-related conditions. This variant results in the deletion of exons 7-9 and part of exon 6 (c.1051_*1379del) of the DES gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. 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 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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