ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1240A>T (p.Thr414Ser)

gnomAD frequency: 0.00005  dbSNP: rs768983113
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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) RCV000728184 SCV000855728 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001036264 SCV001199617 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 414 of the DAG1 protein (p.Thr414Ser). This variant is present in population databases (rs768983113, gnomAD 0.008%). 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: 593206). 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 RCV002533084 SCV003752900 uncertain significance Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing The c.1240A>T (p.T414S) alteration is located in exon 3 (coding exon 2) of the DAG1 gene. This alteration results from a A to T substitution at nucleotide position 1240, causing the threonine (T) at amino acid position 414 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000728184 SCV003830423 uncertain significance not provided 2019-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004757273 SCV005352600 uncertain significance DAG1-related disorder 2024-03-29 no assertion criteria provided clinical testing The DAG1 c.1240A>T variant is predicted to result in the amino acid substitution p.Thr414Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0077% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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