ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7951C>T (p.Gln2651Ter) (rs587781994)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130403 SCV000185263 pathogenic Hereditary cancer-predisposing syndrome 2013-11-18 criteria provided, single submitter clinical testing ​The p.Q2651X pathogenic mutation (also known as c.7951C>T), located in coding exon 53 of the ATM gene, results from a C to T substitution at nucleotide position 7951. This changes the amino acid from a glutamine to a stop codon within coding exon 53. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Counsyl RCV000411562 SCV000487173 likely pathogenic Ataxia-telangiectasia syndrome 2016-10-19 criteria provided, single submitter clinical testing
Invitae RCV000411562 SCV001378711 pathogenic Ataxia-telangiectasia syndrome 2019-06-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2651*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 141766). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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