ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.451-5C>G

dbSNP: rs370181298
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078758 SCV000560905 likely benign Costello syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000681281 SCV000808743 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing The c.451-5 C>G variant has not been published as pathogenic or been reported as benign to our knowledge. However, this variant has been reported in ClinVar as a likely benign variant by an outside laboratory (SCV000560905.2; Landrum et al., 2016). The c.451-5 C>G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Nevertheless, in silico splice prediction programs are inconclusive as to whether this variant has an impact on normal gene splicing. Lastly, splice site variants have not been reported in the Human Gene Mutation Database in association with Costello syndrome (Stenson et al., 2014). However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.

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