Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003079048 | SCV003460745 | uncertain significance | Dilated cardiomyopathy 1JJ | 2024-01-16 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1047 of the LAMA4 protein (p.Gly1047Asp). This variant is present in population databases (rs782592337, gnomAD 0.005%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 31983221, 32880476). This variant is also known as p.Gly1054Asp. ClinVar contains an entry for this variant (Variation ID: 2151974). 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. 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. |