ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.427G>C (p.Glu143Gln)

dbSNP: rs909222512
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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 RCV001226647 SCV001398968 uncertain significance Costello syndrome 2022-03-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 954226). This variant has not been reported in the literature in individuals affected with HRAS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 143 of the HRAS protein (p.Glu143Gln). 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 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.
Baylor Genetics RCV001226647 SCV001520831 uncertain significance Costello syndrome 2019-03-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV004768941 SCV005376926 uncertain significance not provided 2023-10-31 criteria provided, single submitter clinical testing Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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