ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.925C>A (p.Leu309Met)

dbSNP: rs786202521
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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 RCV001019092 SCV001180406 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-28 criteria provided, single submitter clinical testing The p.L309M variant (also known as c.925C>A), located in coding exon 8 of the CHEK2 gene, results from a C to A substitution at nucleotide position 925. The leucine at codon 309 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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