ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1826A>G (p.Lys609Arg)

dbSNP: rs200798800
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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 RCV000648801 SCV000770622 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-12-12 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 609 of the DAG1 protein (p.Lys609Arg). This variant is present in population databases (rs200798800, gnomAD no frequency). 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: 539132). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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 RCV003144432 SCV003830434 uncertain significance not provided 2023-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975751 SCV005570378 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.1826A>G (p.K609R) alteration is located in exon 3 (coding exon 2) of the DAG1 gene. This alteration results from a A to G substitution at nucleotide position 1826, causing the lysine (K) at amino acid position 609 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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