ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2527G>C (p.Ala843Pro) (rs536755553)

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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 RCV000620339 SCV000736297 uncertain significance Cardiovascular phenotype 2016-09-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000814246 SCV000954648 uncertain significance Dilated cardiomyopathy 1JJ 2018-08-10 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 836 of the LAMA4 protein (p.Ala836Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs536755553, ExAC 0.001%). This variant has not been reported in the literature in individuals with LAMA4-related disease. ClinVar contains an entry for this variant (Variation ID: 518812). 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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