ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1883_1887delinsACTTT (p.Ala628_Leu629delinsAspPhe)

dbSNP: rs1559580384
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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 RCV000704656 SCV000833612 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2018-02-04 criteria provided, single submitter clinical testing This variant, c.1883_1887delinsACTTT, results in the insertion of two amino acid to the DAG1 protein p.Ala628_Leu629delinsAspPh), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DAG1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids 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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