ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.687del (p.Val230fs)

gnomAD frequency: 0.00002  dbSNP: rs761101213
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Total submissions: 10
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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 (ga) RCV000724959 SCV000332733 pathogenic not provided 2015-07-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.
GeneDx 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, Fulgent Genetics RCV000401310 SCV002776129 pathogenic Bardet-Biedl syndrome 10 2022-03-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000401310 SCV003813629 pathogenic Bardet-Biedl syndrome 10 2021-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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, Inc. RCV000401310 SCV001462855 pathogenic Bardet-Biedl syndrome 10 2020-09-16 no assertion criteria provided clinical testing

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