ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.76A>C (p.Asn26His)

dbSNP: rs794727277
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808080 SCV002058536 uncertain significance Noonan syndrome 3 2022-01-03 criteria provided, single submitter clinical testing A different missense change at the same codon has been reported to be associated with KRAS related disorder (PMID:20810036, PM5_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.606, 3CNET: 0.861, PP3_P). A missense variant is a common mechanism associated with Noonan syndrome 3 (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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