ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.276_284dup (p.Lys93_Gln95dup)

dbSNP: rs2078889184
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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 RCV001215784 SCV001387546 uncertain significance Ataxia-telangiectasia syndrome 2019-06-11 criteria provided, single submitter clinical testing This variant, c.276_284dup, results in the insertion of 3 amino acid(s) to the ATM protein (p.Lys93_Gln95dup), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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