ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln)

dbSNP: rs201488118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541817 SCV000650611 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-12-11 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 714 of the DAG1 protein (p.Arg714Gln). This variant is present in population databases (rs201488118, gnomAD 0.02%). 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: 471772). 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 with a negative predictive value of 80%. 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.
Revvity Omics, Revvity RCV003144344 SCV003834211 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004609435 SCV005108488 uncertain significance Inborn genetic diseases 2024-03-20 criteria provided, single submitter clinical testing The c.2141G>A (p.R714Q) alteration is located in exon 3 (coding exon 2) of the DAG1 gene. This alteration results from a G to A substitution at nucleotide position 2141, causing the arginine (R) at amino acid position 714 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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