ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2200A>C (p.Thr734Pro)

gnomAD frequency: 0.00001  dbSNP: rs762713364
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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 RCV001968644 SCV002245142 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-05-15 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DAG1 protein function. ClinVar contains an entry for this variant (Variation ID: 1462784). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. This variant is present in population databases (rs762713364, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 734 of the DAG1 protein (p.Thr734Pro).

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