ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2131_2136dup (p.Ser712_Glu713insAsnSer)

dbSNP: rs2497356002
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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 RCV002851226 SCV003217938 uncertain significance Ataxia-telangiectasia syndrome 2022-06-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant, c.2131_2136dup, results in the insertion of 2 amino acid(s) of the ATM protein (p.Asn711_Ser712dup), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with ATM-related conditions. RNA analysis provides insufficient evidence to determine the effect of this variant on ATM splicing (Invitae). 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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