ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5134_5136del (p.Phe1712del)

dbSNP: rs2135891905
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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 RCV002046585 SCV002315195 uncertain significance Ataxia-telangiectasia syndrome 2020-10-27 criteria provided, single submitter clinical testing This variant, c.5134_5136del, results in the deletion of one amino acid(s) of the ATM protein (p.Phe1712del), but otherwise preserves the integrity of the reading frame. 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. This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency).

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