ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4665C>T (p.Leu1555=) (rs374431061)

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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 RCV000163519 SCV000214077 likely benign Hereditary cancer-predisposing syndrome 2014-11-26 criteria provided, single submitter clinical testing
Color RCV000163519 SCV000682217 likely benign Hereditary cancer-predisposing syndrome 2016-05-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725936 SCV000340649 uncertain significance not provided 2016-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000330293 SCV000535764 likely benign not specified 2017-10-25 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 RCV000330293 SCV000918516 uncertain significance not specified 2017-11-24 criteria provided, single submitter clinical testing Variant summary: The ATM c.4665C>T (p.Leu1555Leu) variant involves the alteration of a non-conserved nucleotide causes a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may eliminate an ESE binding site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 13/276154 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.000095 (12/126122). This frequency does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005). In addition, multiple clinical diagnostic laboratories cite the variant with conflicting classifications, "likely benign" or "uncertain significance." The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000461278 SCV000558423 likely benign Ataxia-telangiectasia syndrome 2018-01-13 criteria provided, single submitter clinical testing

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