Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001900900 | SCV002158648 | uncertain significance | Noonan syndrome | 2022-03-19 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with RRAS-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 163 of the RRAS protein (p.Ser163Pro). |
Ambry Genetics | RCV004041523 | SCV002633859 | uncertain significance | not specified | 2023-09-14 | criteria provided, single submitter | clinical testing | The c.487T>C (p.S163P) alteration is located in exon 5 (coding exon 5) of the RRAS gene. This alteration results from a T to C substitution at nucleotide position 487, causing the serine (S) at amino acid position 163 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |