ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1110GGA[2] (p.Glu373del)

dbSNP: rs2125168730
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360049 SCV001555944 uncertain significance Desmin-related myofibrillar myopathy 2022-07-30 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DES-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1116_1118del, results in the deletion of 1 amino acid(s) of the DES protein (p.Glu373del), but otherwise preserves the integrity of the reading frame.
Baylor Genetics RCV001360049 SCV003835207 uncertain significance Desmin-related myofibrillar myopathy 2022-05-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147622 SCV003835590 uncertain significance Dilated cardiomyopathy 1I 2022-05-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147623 SCV003836434 uncertain significance Neurogenic scapuloperoneal syndrome, Kaeser type 2022-05-06 criteria provided, single submitter clinical testing
3billion RCV001360049 SCV004013753 uncertain significance Desmin-related myofibrillar myopathy criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Inframe deletion located in a nonrepeat region: predicted to change the length of the protein and disrupt normal protein function. Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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