ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1205G>T (p.Arg402Leu)

gnomAD frequency: 0.00010  dbSNP: rs537829489
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000259820 SCV000333698 uncertain significance not provided 2015-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001054150 SCV001218452 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 402 of the DAG1 protein (p.Arg402Leu). This variant is present in population databases (rs537829489, gnomAD 0.1%). 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: 282307). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002518847 SCV003705265 uncertain significance Inborn genetic diseases 2022-07-19 criteria provided, single submitter clinical testing The c.1205G>T (p.R402L) 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 1205, causing the arginine (R) at amino acid position 402 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000259820 SCV003834242 uncertain significance not provided 2019-11-15 criteria provided, single submitter clinical testing

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