ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2195C>T (p.Pro732Leu)

gnomAD frequency: 0.00001  dbSNP: rs148514520
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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 RCV001917062 SCV002194835 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 732 of the DAG1 protein (p.Pro732Leu). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1421706). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. This variant is present in population databases (rs148514520, gnomAD 0.006%).

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