ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4437-7A>G (rs370354306)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703689 SCV000522031 likely benign not provided 2020-01-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28779002)
Invitae RCV000472403 SCV000558359 likely benign Ataxia-telangiectasia syndrome 2020-11-17 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579570 SCV000682207 likely benign Hereditary cancer-predisposing syndrome 2015-07-20 criteria provided, single submitter clinical testing
Counsyl RCV000472403 SCV000798693 uncertain significance Ataxia-telangiectasia syndrome 2018-03-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000423984 SCV000918557 uncertain significance not specified 2018-08-31 criteria provided, single submitter clinical testing Variant summary: ATM c.4437-7A>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. The variant allele was found at a frequency of 2.8e-05 in 245686 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4437-7A>G has been reported in the literature in individuals affected with Breast Cancer. This report does not provide unequivocal conclusions about association of the variant with Breast Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (3 likely benign, 1 VUS). Based on the evidence outlined above, the variant was classified as uncertain significance.

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