ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.3594C>A (p.Phe1198Leu)

gnomAD frequency: 0.00010  dbSNP: rs530201164
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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 RCV000246038 SCV000320043 uncertain significance Cardiovascular phenotype 2022-07-18 criteria provided, single submitter clinical testing The p.F1191L variant (also known as c.3573C>A), located in coding exon 26 of the LAMA4 gene, results from a C to A substitution at nucleotide position 3573. The phenylalanine at codon 1191 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Invitae RCV001854986 SCV002197151 uncertain significance Dilated cardiomyopathy 1JJ 2023-06-19 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 264250). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs530201164, gnomAD 0.02%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1191 of the LAMA4 protein (p.Phe1191Leu).

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