ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1307C>T (p.Thr436Met)

gnomAD frequency: 0.00009  dbSNP: rs143573515
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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) RCV000711407 SCV000345920 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648788 SCV000770609 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 436 of the DAG1 protein (p.Thr436Met). This variant is present in population databases (rs143573515, gnomAD 0.01%). 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: 291208). 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 RCV000711407 SCV000841771 uncertain significance not provided 2017-09-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000711407 SCV003834234 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000711407 SCV005409230 uncertain significance not provided 2024-01-31 criteria provided, single submitter clinical testing BP4

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