ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1323CAC[3] (p.Thr446del)

dbSNP: rs778752288
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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 RCV001878161 SCV002126351 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-05-10 criteria provided, single submitter clinical testing This variant, c.1332_1334del, results in the deletion of 1 amino acid(s) of the DAG1 protein (p.Thr446del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs778752288, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. 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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