Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001001147 | SCV001158296 | uncertain significance | Retinitis pigmentosa 33 | 2019-04-03 | criteria provided, single submitter | clinical testing | The SNRNP200 c.4036G>A; p.Val1346Met variant (rs779054512), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is reported in the Latino population with an allele frequency of 0.01% (4/34580 alleles) in the Genome Aggregation Database. The amino acid at this position is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the variant is uncertain at this time. |
| Labcorp Genetics |
RCV001860503 | SCV002284699 | uncertain significance | not provided | 2022-12-02 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1346 of the SNRNP200 protein (p.Val1346Met). 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. 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 SNRNP200 protein function. ClinVar contains an entry for this variant (Variation ID: 811347). This missense change has been observed in individual(s) with autosomal dominant retinitis pigmentosa (Invitae). This variant is present in population databases (rs779054512, gnomAD 0.01%). |
| Ambry Genetics | RCV004962993 | SCV005507208 | uncertain significance | Inborn genetic diseases | 2024-08-12 | criteria provided, single submitter | clinical testing | The c.4036G>A (p.V1346M) alteration is located in exon 30 (coding exon 30) of the SNRNP200 gene. This alteration results from a G to A substitution at nucleotide position 4036, causing the valine (V) at amino acid position 1346 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |