ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5750G>A (p.Arg1917Lys)

dbSNP: rs377289524
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000580990 SCV000682284 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000810238 SCV000950431 uncertain significance Ataxia-telangiectasia syndrome 2024-01-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1917 of the ATM protein (p.Arg1917Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with prostate cancer (PMID: 29659569, 33436325). ClinVar contains an entry for this variant (Variation ID: 489563). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000580990 SCV002651256 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-20 criteria provided, single submitter clinical testing The p.R1917K variant (also known as c.5750G>A), located in coding exon 37 of the ATM gene, results from a G to A substitution at nucleotide position 5750. The arginine at codon 1917 is replaced by lysine, an amino acid with highly similar properties. This alteration was detected in 1/5589 German BRCA1/2-negative probands with breast cancer(Hauke J. et al. Cancer Med 2018 04;7(4):1349-1358 ). This amino acid position is highly conserved in available vertebrate species. 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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