ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4853G>A (p.Arg1618Gln) (rs765759912)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164315 SCV000214946 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-25 criteria provided, single submitter clinical testing The p.R1618Q variant (also known as c.4853G>A), located in coding exon 31 of the ATM gene, results from a G to A substitution at nucleotide position 4853. The arginine at codon 1618 is replaced by glutamine, 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.
Invitae RCV000228294 SCV000282970 likely benign Ataxia-telangiectasia syndrome 2020-12-06 criteria provided, single submitter clinical testing
Color Health, Inc RCV000164315 SCV000903054 likely benign Hereditary cancer-predisposing syndrome 2016-02-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994709 SCV001148429 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000994709 SCV001752193 uncertain significance not provided 2020-09-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with breast cancer (Girard 2018); This variant is associated with the following publications: (PMID: 30303537, 27150160)

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