ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.483G>A (p.Gln161=)

dbSNP: rs864622742
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582637 SCV000687574 likely benign Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000874455 SCV001016632 likely benign Ataxia-telangiectasia syndrome 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582637 SCV002634068 likely benign Hereditary cancer-predisposing syndrome 2020-02-28 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.
Myriad Genetics, Inc. RCV004592848 SCV005083330 benign Familial cancer of breast 2024-04-19 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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