ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.920C>G (p.Pro307Arg)

gnomAD frequency: 0.00024  dbSNP: rs374092106
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063802 SCV001228664 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 307 of the DAG1 protein (p.Pro307Arg). This variant is present in population databases (rs374092106, gnomAD 0.04%). 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: 858009). 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. 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.
GeneDx RCV003314666 SCV004014578 uncertain significance not provided 2023-06-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21388311)
Revvity Omics, Revvity RCV003314666 SCV004234283 uncertain significance not provided 2023-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004609608 SCV005108487 uncertain significance Inborn genetic diseases 2024-04-12 criteria provided, single submitter clinical testing The c.920C>G (p.P307R) alteration is located in exon 3 (coding exon 2) of the DAG1 gene. This alteration results from a C to G substitution at nucleotide position 920, causing the proline (P) at amino acid position 307 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV003314666 SCV005189567 uncertain significance not provided criteria provided, single submitter not provided

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