ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2194C>A (p.Pro732Thr)

dbSNP: rs1406481422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001249844 SCV001423864 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 criteria provided, single submitter research DAG1 c.2194C>A [p.P732T] is a missense variant that changes a single amino acid from proline to threonine. This variant has not been reported previously and is of uncertain clinical significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002568701 SCV003272722 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-11-01 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: 973344). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 732 of the DAG1 protein (p.Pro732Thr).

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