ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2231G>C (p.Ser744Thr)

gnomAD frequency: 0.00947  dbSNP: rs114357468
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217845 SCV000268933 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ser744Thr in exon 6C of DAG1: This variant is not expected to have clinical sign ificance because it has been identified in 3.1% (136/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs114357468).
PreventionGenetics, part of Exact Sciences RCV000217845 SCV000306918 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000217845 SCV000528053 benign not specified 2016-08-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000554129 SCV000650612 benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000217845 SCV001475053 benign not specified 2020-02-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715766 SCV005303503 benign not provided criteria provided, single submitter not provided

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