Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000800373 | SCV000940085 | uncertain significance | Dilated cardiomyopathy 1JJ | 2022-03-15 | 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 646145). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs782515490, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1554 of the LAMA4 protein (p.Glu1554Lys). |
Ambry Genetics | RCV002332625 | SCV002634313 | uncertain significance | Cardiovascular phenotype | 2021-07-15 | criteria provided, single submitter | clinical testing | The p.E1554K variant (also known as c.4660G>A), located in coding exon 33 of the LAMA4 gene, results from a G to A substitution at nucleotide position 4660. The glutamic acid at codon 1554 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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. |