ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.3277A>G (p.Asn1093Asp)

gnomAD frequency: 0.00002  dbSNP: rs782550866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001885763 SCV002143342 uncertain significance Dilated cardiomyopathy 1JJ 2021-02-03 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with LAMA4-related conditions. This variant is present in population databases (rs782550866, ExAC 0.02%). This sequence change replaces asparagine with aspartic acid at codon 1086 of the LAMA4 protein (p.Asn1086Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid.
Ambry Genetics RCV002449521 SCV002611399 uncertain significance Cardiovascular phenotype 2022-07-17 criteria provided, single submitter clinical testing The p.N1086D variant (also known as c.3256A>G), located in coding exon 23 of the LAMA4 gene, results from an A to G substitution at nucleotide position 3256. The asparagine at codon 1086 is replaced by aspartic acid, 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.
Fulgent Genetics, Fulgent Genetics RCV001885763 SCV002777449 uncertain significance Dilated cardiomyopathy 1JJ 2021-08-19 criteria provided, single submitter clinical testing

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