ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1955G>A (p.Arg652Gln)

gnomAD frequency: 0.00001  dbSNP: rs368810294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001915075 SCV002176738 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-09-01 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 652 of the DAG1 protein (p.Arg652Gln). This variant is present in population databases (rs368810294, 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: 1398465). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV004041664 SCV004852963 uncertain significance Inborn genetic diseases 2024-01-09 criteria provided, single submitter clinical testing The c.1955G>A (p.R652Q) 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 1955, causing the arginine (R) at amino acid position 652 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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