ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.535T>A (p.Ser179Thr)

gnomAD frequency: 0.00004  dbSNP: rs201869343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991873 SCV001143707 uncertain significance not provided 2018-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001302557 SCV001491771 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 179 of the DAG1 protein (p.Ser179Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs201869343, ExAC 0.05%). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Revvity Omics, Revvity RCV000991873 SCV003834249 uncertain significance not provided 2020-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001302557 SCV005662597 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-12-29 criteria provided, single submitter clinical testing

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