ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1105A>G (p.Thr369Ala)

dbSNP: rs1553652891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592785 SCV000708212 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001867981 SCV002293186 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2021-05-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DAG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 501731). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 369 of the DAG1 protein (p.Thr369Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine.
Revvity Omics, Revvity RCV000592785 SCV003830430 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing

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