ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.835G>T (p.Ala279Ser)

gnomAD frequency: 0.00004  dbSNP: rs202239406
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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 RCV001213260 SCV001384882 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-04-28 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 943130). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. This variant is present in population databases (rs202239406, gnomAD 0.1%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 279 of the DAG1 protein (p.Ala279Ser). 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 RCV002561807 SCV003720112 uncertain significance Inborn genetic diseases 2022-08-05 criteria provided, single submitter clinical testing The c.835G>T (p.A279S) alteration is located in exon 3 (coding exon 2) of the DAG1 gene. This alteration results from a G to T substitution at nucleotide position 835, causing the alanine (A) at amino acid position 279 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145393 SCV003830431 uncertain significance not provided 2022-10-11 criteria provided, single submitter clinical testing

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