ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.846A>T (p.Leu282Phe)

gnomAD frequency: 0.00001  dbSNP: rs754008850
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570159 SCV000665216 likely benign Hereditary cancer-predisposing syndrome 2024-03-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000570159 SCV000687834 likely benign Hereditary cancer-predisposing syndrome 2025-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000627865 SCV000748749 likely benign Ataxia-telangiectasia syndrome 2025-01-07 criteria provided, single submitter clinical testing
GeneDx RCV003328603 SCV004035517 uncertain significance not provided 2023-03-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29470806, 28779002)
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005367411 SCV005919296 uncertain significance Familial cancer of breast 2023-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000627865 SCV001454850 uncertain significance Ataxia-telangiectasia syndrome 2020-09-16 no assertion criteria provided clinical testing

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