ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6204_6205delinsAA (p.Gln2069Lys)

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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 RCV003501692 SCV004293075 uncertain significance Ataxia-telangiectasia syndrome 2023-05-27 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with ATM-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 2069 of the ATM protein (p.Gln2069Lys).

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