Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001321350 | SCV001512177 | uncertain significance | not provided | 2022-01-14 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1037 of the USH2A protein (p.Pro1037Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1021562). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 | RCV003355387 | SCV004065376 | uncertain significance | Inborn genetic diseases | 2023-09-12 | criteria provided, single submitter | clinical testing | The c.3109C>T (p.P1037S) alteration is located in exon 15 (coding exon 14) of the USH2A gene. This alteration results from a C to T substitution at nucleotide position 3109, causing the proline (P) at amino acid position 1037 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV003449918 | SCV004182371 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449917 | SCV004182372 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |