ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.4572G>C (p.Leu1524Phe)

gnomAD frequency: 0.00005  dbSNP: rs145315273
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651431 SCV000773282 uncertain significance Dilated cardiomyopathy 1JJ 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1517 of the LAMA4 protein (p.Leu1517Phe). This variant is present in population databases (rs145315273, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 541218). 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 tolerated. 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.
AiLife Diagnostics, AiLife Diagnostics RCV002223899 SCV002502478 uncertain significance not provided 2021-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331255 SCV002634217 uncertain significance Cardiovascular phenotype 2022-01-26 criteria provided, single submitter clinical testing The p.L1517F variant (also known as c.4551G>C), located in coding exon 32 of the LAMA4 gene, results from a G to C substitution at nucleotide position 4551. The leucine at codon 1517 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000651431 SCV002792051 uncertain significance Dilated cardiomyopathy 1JJ 2021-10-20 criteria provided, single submitter clinical testing

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