ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8124T>A (p.Asp2708Glu) (rs587781990)

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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 RCV000130392 SCV000185250 pathogenic Hereditary cancer-predisposing syndrome 2019-08-21 criteria provided, single submitter clinical testing 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;Well-characterized mutation at same position;Other data supporting pathogenic classification
Invitae RCV001044776 SCV001208591 likely pathogenic Ataxia-telangiectasia syndrome 2019-01-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 2708 of the ATM protein (p.Asp2708Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with ataxia-telangiectasia (PMID: 22071889, 16411093). ClinVar contains an entry for this variant (Variation ID: 141760). This variant has been reported to affect ATM protein function (PMID: 22071889). This variant disrupts the p.Asp2708 amino acid residue in ATM. Other variant(s) that disrupt this residue have been observed in individuals with ATM-related conditions (PMID: 16941484, 23454770, 23632773, 21665257, 21792198), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. 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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