ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.460G>A (p.Asp154Asn)

gnomAD frequency: 0.00004  dbSNP: rs745497215
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434487 SCV000513253 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing Has been reported as a variant of uncertain significance in an individual with Noonan syndrome (Leach et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 29907801, 30050098)
Invitae RCV000637302 SCV000758753 likely benign Costello syndrome 2023-12-25 criteria provided, single submitter clinical testing

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