ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.310_311del (p.Glu104fs)

dbSNP: rs2136091244
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001899778 SCV002124976 pathogenic Bardet-Biedl syndrome 2021-11-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 20472660). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change creates a premature translational stop signal (p.Glu104Lysfs*7) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 620 amino acid(s) of the BBS10 protein.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001899778 SCV002571912 likely pathogenic Bardet-Biedl syndrome 2022-08-09 criteria provided, single submitter clinical testing Variant summary: BBS10 c.310_311delGA (p.Glu104LysfsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein. While this variant is not predicted to cause nonsense mediated decay, the premature termination would result in a protein missing 86% of the native amino acid sequence. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250860 control chromosomes (gnomAD). c.310_311delGA has been reported in the literature in at least one compound heterozygous individual affected with Bardet-Biedl Syndrome (Billingsley_2010). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV003464179 SCV004217458 pathogenic Bardet-Biedl syndrome 10 2023-04-24 criteria provided, single submitter clinical testing

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