ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.952A>G (p.Ile318Val) (rs141372605)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621871 SCV000736444 uncertain significance Cardiovascular phenotype 2017-09-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient evidence
Invitae RCV000697311 SCV000825913 uncertain significance Dilated cardiomyopathy 1JJ 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 311 of the LAMA4 protein (p.Ile311Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs141372605, ExAC 0.02%). This variant has not been reported in the literature in individuals with LAMA4-related disease. 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 valine 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. 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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