ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4320A>T (p.Lys1440Asn)

dbSNP: rs2082675235
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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 RCV001040737 SCV001204326 uncertain significance Ataxia-telangiectasia syndrome 2019-04-16 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 1440 of the ATM protein (p.Lys1440Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine 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. 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 tolerated, but 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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