ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.449T>C (p.Leu150Pro)

dbSNP: rs2079244605
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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 RCV001220209 SCV001392185 uncertain significance Ataxia-telangiectasia syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 150 of the ATM protein (p.Leu150Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of ataxia-telangiectasia (PMID: 28849312). 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. 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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