ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1020C>A (p.Ala340=) (rs546927781)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163834 SCV000214420 likely benign Hereditary cancer-predisposing syndrome 2015-01-08 criteria provided, single submitter clinical testing
Color RCV000163834 SCV000681945 likely benign Hereditary cancer-predisposing syndrome 2015-08-13 criteria provided, single submitter clinical testing
Counsyl RCV000122815 SCV000789980 likely benign Ataxia-telangiectasia syndrome 2017-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000437511 SCV000521749 likely benign not specified 2017-09-25 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.
Integrated Genetics/Laboratory Corporation of America RCV000437511 SCV000918529 likely benign not specified 2017-12-15 criteria provided, single submitter clinical testing Variant summary: The ATM c.1020C>A (p.Ala340Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 2/5 splice prediction tools predict the generation of a novel splice acceptor site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 46/245942 control chromosomes (2 homozygotes), predominantly observed in the South Asian subpopulation at a frequency of 0.001462 (45/30782). This frequency is higher than the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. Though the variant was reported in one patient affected by breast cancer (Dork 2001), there was no convincing evidence for causality. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000122815 SCV000166072 likely benign Ataxia-telangiectasia syndrome 2017-11-14 criteria provided, single submitter clinical testing

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