ClinVar Miner

Submissions for variant NM_006509.4(RELB):c.631C>A (p.Arg211=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002569732 SCV002938485 uncertain significance not provided 2022-12-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant has not been reported in the literature in individuals affected with RELB-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 211 of the RELB mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RELB protein.

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