ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1766C>T (p.Ala589Val)

dbSNP: rs779045727
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067783 SCV001232863 likely benign Retinoblastoma 2024-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402461 SCV002710625 likely benign Hereditary cancer-predisposing syndrome 2022-03-22 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.
GeneDx RCV004773289 SCV005383068 uncertain significance not provided 2024-02-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23516486, Day alan_2006_Review)

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