ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6988C>G (p.Leu2330Val) (rs148432863)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115238 SCV000172962 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Color RCV000115238 SCV000902719 likely benign Hereditary cancer-predisposing syndrome 2015-12-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000587802 SCV000855439 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000212054 SCV000149147 likely benign not specified 2018-02-20 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 RCV000587802 SCV000694339 likely benign not provided 2016-06-06 criteria provided, single submitter clinical testing Variant summary: The ATM c.6988C>G (p.Leu2330Val) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). This variant was found in 30/120426 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0024568 (25/10176). This frequency is about 5 times the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0005001), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. This variant has been reported in multiple BrC patients without strong evidence for or against pathogenicity. A publication has reported it as a polymorphism without a clear-cut evidence (Teraoka_2001). Multiple clinical diagnostic laboratories classified this variant as VUS, without evidence to independently evaluate. Taken together, mainly based on the variant's frequency in African population, it is currently classified as likely benign until additional information becomes available.
Invitae RCV000122882 SCV000166140 likely benign Ataxia-telangiectasia syndrome 2018-01-12 criteria provided, single submitter clinical testing
Mendelics RCV000122882 SCV000838587 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing

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