ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.297G>T (p.Gln99His)

gnomAD frequency: 0.00001  dbSNP: rs199656012
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231060 SCV001403564 uncertain significance Costello syndrome 2023-04-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 99 of the HRAS protein (p.Gln99His). 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. ClinVar contains an entry for this variant (Variation ID: 957979). This missense change has been observed in individual(s) with clinical features of Costello syndrome (Invitae). This variant is present in population databases (rs199656012, gnomAD 0.003%).

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