ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5683C>A (p.His1895Asn) (rs766901049)

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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 RCV000572229 SCV000667893 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-05 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000572229 SCV001348264 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-09 criteria provided, single submitter clinical testing
Invitae RCV001208305 SCV001379685 uncertain significance Ataxia-telangiectasia syndrome 2019-06-12 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 1895 of the ATM protein (p.His1895Asn). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and asparagine. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 482572). 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 asparagine 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. 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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