ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.496T>G (p.Ser166Ala)

gnomAD frequency: 0.00001  dbSNP: rs1421891404
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707433 SCV000836531 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2019-07-30 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DAG1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with alanine at codon 166 of the DAG1 protein (p.Ser166Ala). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and alanine.

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