ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.96C>T (p.Tyr32=) (rs369039481)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781470 SCV000919527 uncertain significance not specified 2018-09-11 criteria provided, single submitter clinical testing Variant summary: HRAS c.96C>T results in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 245678 control chromosomes (gnomAD) indicated to be a low quality-site. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.96C>T in individuals affected with Noonan Syndrome and Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000637312 SCV000758763 likely benign Costello syndrome 2017-08-24 criteria provided, single submitter clinical testing

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