ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4492T>C (p.Leu1498=)

gnomAD frequency: 0.00001  dbSNP: rs748949478
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163758 SCV000214335 likely benign Hereditary cancer-predisposing syndrome 2014-10-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085061 SCV000259889 likely benign Ataxia-telangiectasia syndrome 2024-01-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163758 SCV000682211 likely benign Hereditary cancer-predisposing syndrome 2017-02-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000761806 SCV000892005 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000761806 SCV001944106 benign not provided 2015-09-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163758 SCV002534845 likely benign Hereditary cancer-predisposing syndrome 2021-04-30 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265641 SCV002548091 likely benign not specified 2022-05-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492680 SCV004240724 likely benign Breast and/or ovarian cancer 2022-07-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589727 SCV005085781 benign Familial cancer of breast 2024-05-20 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences RCV004551410 SCV004759858 likely benign ATM-related disorder 2019-11-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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