ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val)

dbSNP: rs727503116
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150909 SCV000198516 likely benign not specified 2013-05-03 criteria provided, single submitter clinical testing Ile36Val variant in exon 2 of LAMA4: This variant is not expected to have clinic al significance due to a lack of conservation across species, including mammals. Of note, kangaroo rat, rabbit, microbat, rock hyrax and platypus have a valine (Val) at this position despite high nearby amino acid conservation. In addition, computational analyses (AlignGVGD, PolyPhen2) do not suggest a high likelihood of impact to the protein.
GeneDx RCV003332126 SCV000715246 uncertain significance not provided 2023-09-27 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 RCV002408666 SCV002720985 uncertain significance Cardiovascular phenotype 2022-05-02 criteria provided, single submitter clinical testing The p.I36V variant (also known as c.106A>G), located in coding exon 1 of the LAMA4 gene, results from an A to G substitution at nucleotide position 106. The isoleucine at codon 36 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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