ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2353C>T (p.Arg785Cys) (rs587778065)

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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 RCV000223479 SCV000274445 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000223479 SCV000913563 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-06 criteria provided, single submitter clinical testing
Counsyl RCV000664826 SCV000788844 uncertain significance Ataxia-telangiectasia syndrome 2016-12-22 criteria provided, single submitter clinical testing
ITMI RCV000120121 SCV000084259 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000664826 SCV000814167 uncertain significance Ataxia-telangiectasia syndrome 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 785 of the ATM protein (p.Arg785Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs587778065, ExAC 0.001%). This variant has been observed in an individual affected with ataxia-telangiectasia, though no other ATM variant was found in this individual (PMID: 9887333). ClinVar contains an entry for this variant (Variation ID: 133605). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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