ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.200A>G (p.Tyr67Cys) (rs754033733)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213607 SCV000275181 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-05 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Insufficient evidence
Genetic Services Laboratory,University of Chicago RCV000501575 SCV000593493 uncertain significance not specified 2016-04-13 criteria provided, single submitter clinical testing
Invitae RCV000556463 SCV000622302 uncertain significance Ataxia-telangiectasia syndrome 2019-08-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 67 of the ATM protein (p.Tyr67Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs754033733, ExAC 0.01%). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 231354). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000213607 SCV001349949 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-06 criteria provided, single submitter clinical testing
Division of Medical Genetics, University of Washington RCV001250443 SCV001424819 uncertain significance Familial cancer of breast 2019-04-01 criteria provided, single submitter clinical testing To our knowledge, this sequence variant has not been previously reported in the literature. The c.200A>G variant has an overall allele frequency of 0.000004 in the Broad Institute ExAC Browser (http://exac.broadinstitute.org/). In silico analyses indicate this is an evolutionarily conserved residue. Thus, it is unknown at this time whether this variant increases cancer risk.

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