ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1800C>T (p.His600=) (rs750715942)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000583999 SCV000687326 likely benign Hereditary cancer-predisposing syndrome 2017-03-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588595 SCV000694199 uncertain significance not provided 2017-07-06 criteria provided, single submitter clinical testing Variant summary: The ATM c.1800C>T (p.His600His) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in the large control database ExAC at a frequency of 0.0000083 (1/120294 control chromosomes), which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor has it been evaluated for functional impact by in vivo/vitro studies. It co-occurred with another "Likely Pathogenic" variant in the MSH6 gene (c.3936_3951delTATTCAAAAGGGACAT, p.Ile1313fsX9) in an internal specimen tested at our laboratory. Taken together, this variant is classified as VUS-possibly benign.

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