ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8565T>A (p.Ser2855Arg)

dbSNP: rs780905851
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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 RCV001235608 SCV001408299 likely pathogenic Ataxia-telangiectasia syndrome 2019-07-29 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This missense change has been observed in individual(s) with ataxia telangiectasia (PMID: 11857346, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs780905851, ExAC 0.001%). This sequence change replaces serine with arginine at codon 2855 of the ATM protein (p.Ser2855Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine.

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