ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4244A>G (p.Tyr1415Cys) (rs876660540)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222642 SCV000278060 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-15 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000685986 SCV000813489 uncertain significance Ataxia-telangiectasia syndrome 2019-11-08 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1415 of the ATM protein (p.Tyr1415Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with breast cancer (Invitae). However, in that individual, pathogenic allele[s] were also identified in ATM, which suggests that this c.4244A>G variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 233639). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C45"). 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 RCV000222642 SCV001355172 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-04 criteria provided, single submitter clinical testing

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