ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1190T>C (p.Val397Ala)

dbSNP: rs1601722588
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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 RCV001010243 SCV001170410 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-07 criteria provided, single submitter clinical testing The p.V397A variant (also known as c.1190T>C), located in coding exon 10 of the CHEK2 gene, results from a T to C substitution at nucleotide position 1190. The valine at codon 397 is replaced by alanine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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