ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.3483G>A (p.Met1161Ile)

dbSNP: rs1330472146
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804501 SCV000944413 uncertain significance Dilated cardiomyopathy 1JJ 2019-02-28 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 1154 of the LAMA4 protein (p.Met1154Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, 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.

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