Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000680636 | SCV000808080 | likely benign | not provided | 2023-07-17 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Invitae | RCV001042539 | SCV001206223 | uncertain significance | RASopathy | 2022-06-22 | 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. ClinVar contains an entry for this variant (Variation ID: 561350). This variant has not been reported in the literature in individuals affected with NRAS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 11 of the NRAS protein (p.Ala11Thr). |
Ambry Genetics | RCV002532191 | SCV003558985 | uncertain significance | Inborn genetic diseases | 2021-10-17 | criteria provided, single submitter | clinical testing | The c.31G>A (p.A11T) alteration is located in exon 2 (coding exon 1) of the NRAS gene. This alteration results from a G to A substitution at nucleotide position 31, causing the alanine (A) at amino acid position 11 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |