ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.370A>G (p.Ile124Val) (rs148590073)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115178 SCV000186563 likely benign Hereditary cancer-predisposing syndrome 2017-09-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Color RCV000115178 SCV000682156 likely benign Hereditary cancer-predisposing syndrome 2015-03-04 criteria provided, single submitter clinical testing
Counsyl RCV000122843 SCV000797247 likely benign Ataxia-telangiectasia syndrome 2018-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000254228 SCV000149087 likely benign not specified 2018-01-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000254228 SCV000916543 benign not specified 2017-09-07 criteria provided, single submitter clinical testing Variant summary: The ATM c.370A>G (p.Ile124Val) variant involves the alteration of a non-conserved nucleotide. 5/5 in silico tools predict a benign outcome for this variant . This variant was found in 93/126020 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.007634 (79/10348). This frequency is about 8 times the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. This missense mutation has been observed in cancer patients without significant evidence for a causal role in disease (e.g. co-segregation data were not provided). In at least one ataxia-telangiectasia patient the variant co-occured with two other mutations predicted to be causative for ataxia-telangiectasia (Buzin_2003). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign, and most peer reviewed publications consider the variant a polymorphism. Taken together, this variant is classified as benign.
Invitae RCV000122843 SCV000166101 benign Ataxia-telangiectasia syndrome 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000254228 SCV000301663 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000679113 SCV000805541 likely benign not provided 2015-09-16 criteria provided, single submitter clinical testing

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