ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4454A>G (p.Asp1485Gly) (rs1555099762)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542920 SCV000622502 uncertain significance Ataxia-telangiectasia syndrome 2018-07-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1485 of the ATM protein (p.Asp1485Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ATM-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The glycine 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000572708 SCV000667939 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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