ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3565C>G (p.Leu1189Val)

dbSNP: rs370602633
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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 RCV001020620 SCV001182124 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-14 criteria provided, single submitter clinical testing The p.L1189V variant (also known as c.3565C>G), located in coding exon 23 of the ATM gene, results from a C to G substitution at nucleotide position 3565. The leucine at codon 1189 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly 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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