ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3577-6G>A (rs56006345)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232908 SCV000282934 likely benign Ataxia-telangiectasia syndrome 2020-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000588724 SCV000512160 likely benign not provided 2019-09-19 criteria provided, single submitter clinical testing
Color Health, Inc RCV000580514 SCV000682146 likely benign Hereditary cancer-predisposing syndrome 2015-11-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588724 SCV000694262 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing Variant summary: The ATM c.3577-6G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. 3/5 predicted change of cryptic splicing sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/120616 control chromosomes at a frequency of 0.0000249, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005). In addition, one clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. One internal sample also carried a disease variant in BRCA1 c.3869_3870delAA. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS)-possible benign until additional information becomes available.
Counsyl RCV000232908 SCV000792556 likely benign Ataxia-telangiectasia syndrome 2017-06-30 criteria provided, single submitter clinical testing

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