ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr)

gnomAD frequency: 0.00008  dbSNP: rs782162498
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198964 SCV000250532 uncertain significance not provided 2020-01-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32880476)
Invitae RCV001037706 SCV001201134 uncertain significance Dilated cardiomyopathy 1JJ 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 860 of the LAMA4 protein (p.Pro860Thr). This variant is present in population databases (rs782162498, gnomAD 0.02%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 32880476). This variant is also known as p.Pro867Thr. ClinVar contains an entry for this variant (Variation ID: 213587). 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.
Ambry Genetics RCV002453721 SCV002739129 uncertain significance Cardiovascular phenotype 2021-12-14 criteria provided, single submitter clinical testing The p.P860T variant (also known as c.2578C>A), located in coding exon 19 of the LAMA4 gene, results from a C to A substitution at nucleotide position 2578. The proline at codon 860 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Fulgent Genetics, Fulgent Genetics RCV001037706 SCV002816272 uncertain significance Dilated cardiomyopathy 1JJ 2021-09-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000198964 SCV001926295 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000198964 SCV001952467 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000198964 SCV002034643 uncertain significance not provided no assertion criteria provided clinical testing

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