ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.1953T>C (p.Asn651=) (rs200621431)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000261769 SCV000338716 uncertain significance not provided 2016-01-13 criteria provided, single submitter clinical testing
Invitae RCV001239950 SCV001412859 uncertain significance Bardet-Biedl syndrome 2019-11-17 criteria provided, single submitter clinical testing This sequence change affects codon 651 of the BBS2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BBS2 protein. This variant is present in population databases (rs200621431, ExAC 0.01%). This variant has not been reported in the literature in individuals with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 285607). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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