ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8471G>A (p.Cys2824Tyr) (rs876660927)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213976 SCV000278739 uncertain significance Hereditary cancer-predisposing syndrome 2015-10-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Invitae RCV000823433 SCV000964293 uncertain significance Ataxia-telangiectasia syndrome 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 2824 of the ATM protein (p.Cys2824Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a cell line derived from an individual affected with ataxia telangiectasia (PMID: 9150358). ClinVar contains an entry for this variant (Variation ID: 234209). An experimental study has reported that cells harboring this variant and a second ATM variant (not specified in the literature) result in loss of ATM protein expression (PMID: 9150358). 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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