ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1210A>G (p.Thr404Ala)

gnomAD frequency: 0.00002  dbSNP: rs769229834
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591477 SCV000704644 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000695924 SCV000824463 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 404 of the DAG1 protein (p.Thr404Ala). This variant is present in population databases (rs769229834, 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: 499248). 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.
Athena Diagnostics RCV000591477 SCV001477190 uncertain significance not provided 2020-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000591477 SCV001793753 uncertain significance not provided 2021-02-05 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
Ambry Genetics RCV002532454 SCV003697595 uncertain significance Inborn genetic diseases 2022-12-02 criteria provided, single submitter clinical testing The c.1210A>G (p.T404A) 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 1210, causing the threonine (T) at amino acid position 404 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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