ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His) (rs397516723)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621421 SCV000737085 uncertain significance Cardiovascular phenotype 2016-05-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000693225 SCV000821085 uncertain significance Dilated cardiomyopathy 1JJ 2018-03-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 690 of the LAMA4 protein (p.Arg690His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs397516723, ExAC 0.01%). This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 44360). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037348 SCV000061005 likely benign not specified 2018-03-14 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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