ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5002C>A (p.Leu1668Ile)

dbSNP: rs747317946
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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 RCV000703386 SCV000832283 uncertain significance Ataxia-telangiectasia syndrome 2018-04-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ATM-related disease. This sequence change replaces leucine with isoleucine at codon 1668 of the ATM protein (p.Leu1668Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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