ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.520C>A (p.Leu174Ile)

dbSNP: rs876659400
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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 RCV000216235 SCV000277068 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-08 criteria provided, single submitter clinical testing The p.L174I variant (also known as c.520C>A), located in coding exon 3 of the CHEK2 gene, results from a C to A substitution at nucleotide position 520. The leucine at codon 174 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well 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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