ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.117G>A (p.Lys39=)

gnomAD frequency: 0.00001  dbSNP: rs755877218
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321058 SCV001511871 uncertain significance Bardet-Biedl syndrome 2022-03-13 criteria provided, single submitter clinical testing This sequence change affects codon 39 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 1, which is part of the consensus splice site for this exon. This variant is present in population databases (rs755877218, gnomAD 0.007%). This variant has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 21344540; Invitae). ClinVar contains an entry for this variant (Variation ID: 1021318). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV005014410 SCV005646166 likely pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-01-10 criteria provided, single submitter clinical testing

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