ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.941T>A (p.Val314Asp)

gnomAD frequency: 0.00004  dbSNP: rs780006952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866271 SCV001007344 benign Retinoblastoma 2023-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442821 SCV002682916 likely benign Hereditary cancer-predisposing syndrome 2023-02-28 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.
GeneDx RCV002510994 SCV002820734 uncertain significance not provided 2022-07-14 criteria provided, single submitter clinical testing 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
All of Us Research Program, National Institutes of Health RCV000866271 SCV004839456 uncertain significance Retinoblastoma 2023-10-27 criteria provided, single submitter clinical testing This missense variant replaces valine with aspartic acid at codon 314 of the RB1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RB1-related disorders in the literature. This variant has been identified in 10/248564 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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