ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.535C>T (p.Pro179Ser)

gnomAD frequency: 0.00001  dbSNP: rs1201430199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919589 SCV002191585 uncertain significance Costello syndrome 2022-03-10 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 179 of the HRAS protein (p.Pro179Ser). 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 HRAS-related conditions. 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 not expected to disrupt HRAS protein function. 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 RCV002344051 SCV002641591 uncertain significance Cardiovascular phenotype 2022-04-01 criteria provided, single submitter clinical testing The p.P179S variant (also known as c.535C>T), located in coding exon 4 of the HRAS gene, results from a C to T substitution at nucleotide position 535. The proline at codon 179 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003159220 SCV003852771 uncertain significance not provided 2022-09-30 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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