ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2327G>A (p.Arg776His)

dbSNP: rs753991804
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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 RCV002012261 SCV002227933 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1448874). This missense change has been observed in individual(s) with elevated creatine kinase levels (PMID: 31066050). This variant is present in population databases (rs753991804, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 776 of the DAG1 protein (p.Arg776His). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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