ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5152_5160dup (p.Asn1720_Thr1721insLeuAsnAsn)

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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 RCV003606472 SCV004431943 uncertain significance Ataxia-telangiectasia syndrome 2023-01-24 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. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.5152_5160dup, results in the insertion of 3 amino acid(s) of the ATM protein (p.Leu1718_Asn1720dup), but otherwise preserves the integrity of the reading frame.

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