Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462484 | SCV000544607 | uncertain significance | Dilated cardiomyopathy 1JJ | 2022-07-25 | criteria provided, single submitter | clinical testing | 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 406149). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs782325733, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 298 of the LAMA4 protein (p.Ala298Thr). 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. |
Fulgent Genetics, |
RCV000462484 | SCV002805562 | uncertain significance | Dilated cardiomyopathy 1JJ | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003352869 | SCV004061860 | uncertain significance | Inborn genetic diseases | 2023-07-25 | criteria provided, single submitter | clinical testing | The c.892G>A (p.A298T) alteration is located in exon 8 (coding exon 7) of the LAMA4 gene. This alteration results from a G to A substitution at nucleotide position 892, causing the alanine (A) at amino acid position 298 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |