ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7967T>C (p.Leu2656Pro)

dbSNP: rs121434218
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004700183 SCV005201686 likely pathogenic not provided 2023-11-22 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect: reduced colony survival upon exposure to ionizing radiation compared to wildtype without kinase activity (PMID: 18634022); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22529920, 9450874, 18634022)
OMIM RCV000003167 SCV000023325 pathogenic Ataxia-telangiectasia without immunodeficiency 1998-01-13 no assertion criteria provided literature only

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