Total submissions: 5
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. |