ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4437-9C>T

gnomAD frequency: 0.00002  dbSNP: rs766003804
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195466 SCV000254108 likely benign Ataxia-telangiectasia syndrome 2022-11-04 criteria provided, single submitter clinical testing
GeneDx RCV001722111 SCV000512161 likely benign not provided 2018-07-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000582132 SCV000687548 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
Counsyl RCV000195466 SCV000798406 likely benign Ataxia-telangiectasia syndrome 2018-03-09 criteria provided, single submitter clinical testing
Mendelics RCV000195466 SCV001138502 likely benign Ataxia-telangiectasia syndrome 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000433234 SCV001338440 uncertain significance not specified 2020-04-30 criteria provided, single submitter clinical testing Variant summary: ATM c.4437-9C>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. 4/4 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 2.4e-05 in 248642 control chromosomes. 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.4437-9C>T in individuals affected with Ataxia-Telangiectasia and no experimental evidence demonstrating its impact on protein function have been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS - possibly benign.
Genetic Services Laboratory, University of Chicago RCV000433234 SCV002068671 likely benign not specified 2019-02-27 criteria provided, single submitter clinical testing

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