Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ce |
RCV000585460 | SCV000692925 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | LAMA1: BP4 |
| Labcorp Genetics |
RCV000585460 | SCV002248128 | uncertain significance | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 2086 of the LAMA1 protein (p.Lys2086Thr). This variant is present in population databases (rs142934543, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 493227). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LAMA1 protein function. 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. |
| Ambry Genetics | RCV002530842 | SCV003708598 | likely benign | Inborn genetic diseases | 2022-01-07 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Revvity Omics, |
RCV003133387 | SCV003812723 | uncertain significance | Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 2022-11-02 | criteria provided, single submitter | clinical testing | |
| Institute of Human Genetics, |
RCV004817779 | SCV005068792 | uncertain significance | Retinal dystrophy | 2022-01-01 | no assertion criteria provided | clinical testing |