Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705528 | SCV000834529 | uncertain significance | Dilated cardiomyopathy 1JJ | 2022-07-17 | 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 C0"). ClinVar contains an entry for this variant (Variation ID: 581639). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 184 of the LAMA4 protein (p.Cys184Arg). |
Ambry Genetics | RCV003372829 | SCV004098476 | uncertain significance | Cardiovascular phenotype | 2023-06-28 | criteria provided, single submitter | clinical testing | The p.C184R variant (also known as c.550T>C), located in coding exon 5 of the LAMA4 gene, results from a T to C substitution at nucleotide position 550. The cysteine at codon 184 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |