ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7620C>T (p.Val2540=)

gnomAD frequency: 0.00001  dbSNP: rs863224298
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582522 SCV000687780 likely benign Hereditary cancer-predisposing syndrome 2016-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000628265 SCV000749160 likely benign Ataxia-telangiectasia syndrome 2023-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582522 SCV002669672 likely benign Hereditary cancer-predisposing syndrome 2017-09-08 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.
CeGaT Center for Human Genetics Tuebingen RCV004568288 SCV005050781 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ATM: BP4, BP7
Myriad Genetics, Inc. RCV004592880 SCV005082615 benign Familial cancer of breast 2024-06-14 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.

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