ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1859C>T (p.Thr620Met)

gnomAD frequency: 0.00003  dbSNP: rs554834063
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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 RCV000632964 SCV000754173 benign Retinoblastoma 2023-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013423 SCV001174006 likely benign Hereditary cancer-predisposing syndrome 2023-05-22 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.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000632964 SCV003842974 uncertain significance Retinoblastoma 2022-12-22 criteria provided, single submitter clinical testing The RB1 c.1859C>T (p.Thr620Met) missense change has a maximum subpopulation frequency of 0.0065% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in the literature in individuals with retinoblastoma. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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