ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2467G>T (p.Ala823Ser) (rs786202895)

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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 RCV000165954 SCV000216711 uncertain significance Hereditary cancer-predisposing syndrome 2014-09-30 criteria provided, single submitter clinical testing
Invitae RCV000627939 SCV000748824 uncertain significance Ataxia-telangiectasia syndrome 2017-10-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 823 of the ATM protein (p.Ala823Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 186370). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine 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 and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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