ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.829G>A (p.Val277Ile)

gnomAD frequency: 0.00006  dbSNP: rs375892170
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534893 SCV000650628 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 277 of the DAG1 protein (p.Val277Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs375892170, ExAC 0.003%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Eurofins Ntd Llc (ga) RCV000734229 SCV000862353 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000734229 SCV002558172 uncertain significance not provided 2022-01-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21388311)

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