ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.*44C>T

dbSNP: rs1555192443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659837 SCV000781703 likely benign Noonan syndrome 3 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091902 SCV005758664 uncertain significance RASopathy 2024-07-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg164*) in the KRAS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 25 amino acid(s) of the KRAS protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KRAS-related conditions. ClinVar contains an entry for this variant (Variation ID: 547512). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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