Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001855848 | SCV002185423 | uncertain significance | not provided | 2024-11-05 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 2034 of the LAMA5 protein (p.Asp2034Gly). This variant is present in population databases (rs773956500, gnomAD 0.009%). This missense change has been observed in individual(s) with nephrotic syndrome (internal data). ClinVar contains an entry for this variant (Variation ID: 599489). 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 tolerated. 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 | RCV002533761 | SCV003747068 | uncertain significance | Inborn genetic diseases | 2021-08-30 | criteria provided, single submitter | clinical testing | The c.6101A>G (p.D2034G) alteration is located in exon 46 (coding exon 46) of the LAMA5 gene. This alteration results from a A to G substitution at nucleotide position 6101, causing the aspartic acid (D) at amino acid position 2034 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Genomic Medicine Center of Excellence, |
RCV003989118 | SCV004805736 | uncertain significance | Nephrotic syndrome, IIa 26 | 2024-03-29 | criteria provided, single submitter | clinical testing | |
| Institute of Human Genetics, |
RCV000736126 | SCV000864423 | likely pathogenic | Short stature | 2001-11-18 | no assertion criteria provided | case-control |