ClinVar Miner

Submissions for variant NM_176795.5(HRAS):c.488_497del (p.Leu163fs)

dbSNP: rs764755556
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV001775533 SCV002014563 pathogenic Costello syndrome 2017-01-01 criteria provided, single submitter research
Baylor Genetics RCV001775533 SCV003835072 likely pathogenic Costello syndrome 2021-11-02 criteria provided, single submitter clinical testing
GeneDx RCV005057609 SCV005690321 likely pathogenic not provided 2024-08-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 7 amino acids are replaced with 51 different amino acid in a gene for which loss-of-function is not an established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.481_490delGGGACCCTCT (NM_176795.4); This variant is associated with the following publications: (PMID: 28390077)

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