ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.126G>C (p.Trp42Cys)

dbSNP: rs2050738653
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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 RCV001216602 SCV001388406 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2019-05-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DAG1-related conditions. This sequence change replaces tryptophan with cysteine at codon 42 of the DAG1 protein (p.Trp42Cys). The tryptophan residue is moderately conserved and there is a large physicochemical difference between tryptophan and cysteine.

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