ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4331_4332insTTT (p.Leu1444dup)

dbSNP: rs1060501663
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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 RCV000465155 SCV000547029 uncertain significance Ataxia-telangiectasia syndrome 2016-06-17 criteria provided, single submitter clinical testing In summary, this is a novel in-frame duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ATM-related disease. This sequence change inserts 3 nucleotides in exon 29 of the ATM mRNA (c.4331_4332insTTT). This leads to the insertion of 1 amino acid residue in the ATM protein (p.Leu1444dup) but otherwise preserves the integrity of the reading frame.

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