ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2828A>C (p.His943Pro)

dbSNP: rs2081396482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001226379 SCV001398691 uncertain significance Ataxia-telangiectasia syndrome 2019-08-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ATM-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with proline at codon 943 of the ATM protein (p.His943Pro). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and proline.

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