Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000246038 | SCV000320043 | uncertain significance | Cardiovascular phenotype | 2022-07-18 | criteria provided, single submitter | clinical testing | The p.F1191L variant (also known as c.3573C>A), located in coding exon 26 of the LAMA4 gene, results from a C to A substitution at nucleotide position 3573. The phenylalanine at codon 1191 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
Invitae | RCV001854986 | SCV002197151 | uncertain significance | Dilated cardiomyopathy 1JJ | 2023-06-19 | 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: 264250). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs530201164, gnomAD 0.02%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1191 of the LAMA4 protein (p.Phe1191Leu). |