ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2177A>T (p.Asp726Val)

gnomAD frequency: 0.00001  dbSNP: rs781823199
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171980 SCV000055154 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV003165357 SCV003896318 uncertain significance Cardiovascular phenotype 2023-01-31 criteria provided, single submitter clinical testing The p.D719V variant (also known as c.2156A>T), located in coding exon 17 of the LAMA4 gene, results from an A to T substitution at nucleotide position 2156. The aspartic acid at codon 719 is replaced by valine, an amino acid with highly dissimilar 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.

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