Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000520548 | SCV000616401 | likely benign | RASopathy | 2024-09-17 | reviewed by expert panel | curation | The c.510G>A variant in the HRAS gene is a synonymous (silent) variant (p.Lys170=) at a nucleotide that is not predicted by SpliceAI to impact splicing (BP4, BP7). The filtering allele frequency in gnomAD v4.1.0 is 0.02525% (17/44900 alleles) in the East Asian population meeting BS1. This variant has been identified in patients with an alternate molecular basis for disease (BP5; LMM and GeneDx internal data; GTR ID's: 21766, 26957; ClinVar SCV000062144.5; SCV000168832.9). In summary, this variant meets criteria to be classified as likely benign for autosomal dominant RASopathies based on the ACMG/AMP criteria applied, as specified by the ClinGen RASopathy Variant Curation Expert Panel: BS1, BP4, BP5, BP7 (Specification Version 2.1, 09/17/2024) |
Laboratory for Molecular Medicine, |
RCV000038466 | SCV000062144 | likely benign | not specified | 2012-01-17 | criteria provided, single submitter | clinical testing | Lys170Lys in exon 5B of HRAS: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and it is not located w ithin the splice consensus sequence. |
Gene |
RCV000038466 | SCV000168832 | benign | not specified | 2013-08-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000473658 | SCV000560896 | likely benign | Costello syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000038466 | SCV001363425 | benign | not specified | 2019-07-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003162338 | SCV003864010 | likely benign | Cardiovascular phenotype | 2022-11-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |