ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.4A>C (p.Thr2Pro)

dbSNP: rs2135806400
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002343026 SCV002640678 uncertain significance Cardiovascular phenotype 2022-09-24 criteria provided, single submitter clinical testing The p.T2P variant (also known as c.4A>C), located in coding exon 1 of the KRAS gene, results from an A to C substitution at nucleotide position 4. The threonine at codon 2 is replaced by proline, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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