ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.572G>A (p.Gly191Glu) (rs782010849)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769206 SCV000900582 uncertain significance Cardiomyopathy 2015-11-06 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000769206 SCV000995763 likely benign Cardiomyopathy 2019-01-31 criteria provided, single submitter clinical testing
Invitae RCV001312249 SCV001502691 uncertain significance Dilated cardiomyopathy 1JJ 2020-07-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 191 of the LAMA4 protein (p.Gly191Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs782010849, ExAC 0.05%). This variant has not been reported in the literature in individuals with LAMA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 626481). 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: Probably 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.

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