ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.4724T>C (p.Leu1575Pro)

gnomAD frequency: 0.00001  dbSNP: rs372502180
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806354 SCV000946346 uncertain significance Dilated cardiomyopathy 1JJ 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1568 of the LAMA4 protein (p.Leu1568Pro). This variant is present in population databases (rs372502180, gnomAD 0.004%). 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: 651076). 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. 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.
GeneDx RCV002462167 SCV002757564 uncertain significance not provided 2022-05-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003307485 SCV004000338 uncertain significance Cardiovascular phenotype 2023-05-19 criteria provided, single submitter clinical testing The p.L1568P variant (also known as c.4703T>C), located in coding exon 33 of the LAMA4 gene, results from a T to C substitution at nucleotide position 4703. The leucine at codon 1568 is replaced by proline, an amino acid with 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.

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