Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000622022 | SCV000736401 | uncertain significance | Cardiovascular phenotype | 2022-09-05 | criteria provided, single submitter | clinical testing | The p.R1672G variant (also known as c.5014A>G), located in coding exon 35 of the LAMA4 gene, results from an A to G substitution at nucleotide position 5014. The arginine at codon 1672 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
| Invitae | RCV003741209 | SCV004399835 | uncertain significance | Dilated cardiomyopathy 1JJ | 2023-09-01 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 518848). This missense change has been observed in individual(s) with LAMA4-related conditions (PMID: 29247119). This variant is present in population databases (rs781995760, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1672 of the LAMA4 protein (p.Arg1672Gly). |