ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8737G>T (p.Asp2913Tyr) (rs756899044)

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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 RCV000221292 SCV000274516 likely pathogenic Hereditary cancer-predisposing syndrome 2016-07-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification
Invitae RCV000802642 SCV000942483 likely pathogenic Ataxia-telangiectasia syndrome 2018-10-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 2913 of the ATM protein (p.Asp2913Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous in several families affected with ataxia-telangiectasia (PMID: 22071889, 21665257). ClinVar contains an entry for this variant (Variation ID: 230841). Experimental studies have shown that this missense change impairs the normal function of the ATM protein (PMID: 22071889). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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