ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2647A>G (p.Met883Val)

gnomAD frequency: 0.00001  dbSNP: rs754908618
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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) RCV000732019 SCV000859895 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001372717 SCV001569400 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-07-17 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. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 883 of the DAG1 protein (p.Met883Val). This variant is present in population databases (rs754908618, gnomAD 0.003%). 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: 596255). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DAG1 protein function.
Athena Diagnostics RCV000732019 SCV002770796 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000732019 SCV003830433 uncertain significance not provided 2023-09-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000732019 SCV005189572 uncertain significance not provided criteria provided, single submitter not provided

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