ClinVar Miner

Submissions for variant NM_001927.4(DES):c.494A>G (p.Gln165Arg)

dbSNP: rs1369044757
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767693 SCV001999456 uncertain significance not provided 2019-11-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Fulgent Genetics, Fulgent Genetics RCV002488572 SCV002780104 uncertain significance Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type 2021-10-20 criteria provided, single submitter clinical testing

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