ClinVar Miner

Submissions for variant NM_002894.3(RBBP8):c.153-3T>C

gnomAD frequency: 0.00001  dbSNP: rs369315269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443626 SCV000522514 likely benign not specified 2016-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519547 SCV003297898 uncertain significance not provided 2022-05-15 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the RBBP8 gene. It does not directly change the encoded amino acid sequence of the RBBP8 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs369315269, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RBBP8-related conditions. ClinVar contains an entry for this variant (Variation ID: 382549). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004732873 SCV005354043 likely benign RBBP8-related disorder 2024-07-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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