ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1797G>A (p.Lys599=)

dbSNP: rs1177431007
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247505 SCV001420932 likely pathogenic Bardet-Biedl syndrome 2022-05-24 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 971675). This variant has been observed in individual(s) with clinical features of BBS2-related conditions (PMID: 31054281; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 599 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 also falls at the last nucleotide of exon 14, which is part of the consensus splice site for this exon.

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