ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6795C>T (p.Phe2265=) (rs3218699)

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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 RCV000123710 SCV000212931 likely benign Hereditary cancer-predisposing syndrome 2014-07-07 criteria provided, single submitter clinical testing
Color RCV000123710 SCV000537473 likely benign Hereditary cancer-predisposing syndrome 2015-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000212049 SCV000167053 benign not specified 2014-01-22 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.
Genetic Services Laboratory, University of Chicago RCV000212049 SCV000593489 likely benign not specified 2017-04-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000122878 SCV000367065 uncertain significance Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000212049 SCV000916583 likely benign not specified 2018-06-18 criteria provided, single submitter clinical testing Variant summary: ATM c.6795C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00021 in 273300 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.6795C>T, has been reported in the literature with limited information (Bernstein_2010, Pettitt_2001). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign (3x) and uncertain signifncance (1x). Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV000122878 SCV000166136 likely benign Ataxia-telangiectasia syndrome 2017-12-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679140 SCV000805608 likely benign not provided 2017-01-06 criteria provided, single submitter clinical testing

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