ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3577-7C>T (rs558667657)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203985 SCV000261152 likely benign Ataxia-telangiectasia syndrome 2020-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001722129 SCV000520755 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579566 SCV000682147 likely benign Hereditary cancer-predisposing syndrome 2017-05-29 criteria provided, single submitter clinical testing
Counsyl RCV000203985 SCV000797151 uncertain significance Ataxia-telangiectasia syndrome 2018-01-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000429730 SCV001360473 uncertain significance not specified 2019-07-22 criteria provided, single submitter clinical testing Variant summary: ATM c.3577-7C>T 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. 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 1.6e-05 in 249842 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3577-7C>T in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely benign (3x) or VUS (1x). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV000203985 SCV001457152 likely benign Ataxia-telangiectasia syndrome 2020-09-16 no assertion criteria provided clinical testing

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