Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000197461 | SCV000253943 | pathogenic | Bardet-Biedl syndrome | 2023-12-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val230Phefs*7) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 494 amino acid(s) of the BBS10 protein. This variant is present in population databases (rs761101213, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with autosomal recessive Bardet-Biedl syndrome (PMID: 16582908, 20472660, 21642631). ClinVar contains an entry for this variant (Variation ID: 216123). This variant disrupts a region of the BBS10 protein in which other variant(s) (p.Val707*) have been determined to be pathogenic (PMID: 20472660, 22773737, 25982971, 27486776). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Eurofins Ntd Llc |
RCV000724959 | SCV000332733 | pathogenic | not provided | 2015-07-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000401310 | SCV000916667 | pathogenic | Bardet-Biedl syndrome 10 | 2017-11-27 | criteria provided, single submitter | clinical testing | Variant summary: The BBS10 c.687delT (p.Val230PhefsX7) variant results in a premature termination codon, predicted to cause a truncated or absent BBS10 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.1091delA (p.Asn364fsX5), c.1677delC (p.Tyr559X), and c.2119_2120delGT (p.Val707X)). This variant was found in 4/246048 control chromosomes (gnomAD) at a frequency of 0.0000163, which does not exceed the estimated maximal expected allele frequency of a pathogenic BBS10 variant (0.0013363). Multiple publications have cited the variant in compound heterozygote BBS patients (Billingsley_2010, Chen_2011, Pereiro_2011). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. |
Gene |
RCV000724959 | SCV002574255 | pathogenic | not provided | 2022-09-15 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 494 amino acids are replaced with 6 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); This variant is associated with the following publications: (PMID: 25982971, 20472660, 21642631, 21157496, 16582908) |
Fulgent Genetics, |
RCV000401310 | SCV002776129 | pathogenic | Bardet-Biedl syndrome 10 | 2022-03-14 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000401310 | SCV003813629 | pathogenic | Bardet-Biedl syndrome 10 | 2021-12-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003401079 | SCV004105166 | pathogenic | BBS10-related condition | 2023-09-07 | criteria provided, single submitter | clinical testing | The BBS10 c.687delT variant is predicted to result in a frameshift and premature protein termination (p.Val230Phefs*7). This variant has been reported in multiple individuals with Bardet-Biedl syndrome (Stoetzel et al. 2006. PubMed ID: 16582908; Billingsley et al 2010. PubMed ID: 20472660; Chen et al. 2011. PubMed ID: 21642631). This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-76741077-CA-C). Frameshift variants in BBS10 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Baylor Genetics | RCV000401310 | SCV004217417 | pathogenic | Bardet-Biedl syndrome 10 | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000401310 | SCV000798037 | pathogenic | Bardet-Biedl syndrome 10 | 2018-02-20 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000401310 | SCV001462855 | pathogenic | Bardet-Biedl syndrome 10 | 2020-09-16 | no assertion criteria provided | clinical testing |