ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1110G>A (p.Pro370=)

gnomAD frequency: 0.00002  dbSNP: rs183771956
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668784 SCV000793439 uncertain significance Bardet-Biedl syndrome 1 2017-08-16 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000668784 SCV001156407 pathogenic Bardet-Biedl syndrome 1 2019-02-01 criteria provided, single submitter clinical testing
Invitae RCV001377153 SCV001574403 likely pathogenic Bardet-Biedl syndrome 2023-09-26 criteria provided, single submitter clinical testing This sequence change affects codon 370 of the BBS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BBS1 protein. This variant also falls at the last nucleotide of exon 11, which is part of the consensus splice site for this exon. 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 variant has been observed in individuals with BBS1-related conditions (PMID: 16877420, 23432027; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 553357). 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 create or strengthen a splice site. 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.
GeneDx RCV001756134 SCV001986114 likely pathogenic not provided 2022-12-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16877420, 23432027, 22773737)

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