ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2039G>A (p.Arg680Gln)

gnomAD frequency: 0.00004  dbSNP: rs376931365
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353577 SCV000344583 uncertain significance not provided 2016-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001217055 SCV001388882 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 680 of the DAG1 protein (p.Arg680Gln). This variant is present in population databases (rs376931365, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 290088). 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. 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.
Baylor Genetics RCV001332440 SCV001524768 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2019-01-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV000353577 SCV003834235 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000353577 SCV005333517 uncertain significance not provided 2023-09-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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