ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.2030del (p.Gly677fs) (rs1064796315)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484565 SCV000572905 likely pathogenic not provided 2017-01-30 criteria provided, single submitter clinical testing The c.2030delG variant in the BBS10 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Glycine 677, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Gly677ValfsX5. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 47 amino acids of the protein are replaced with 4 incorrect amino acids. The c.2030delG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.2030delG variant is a strong candidate for a pathogenic variant; however, the possibility it may be a rare benign variant cannot be excluded.
Invitae RCV000528260 SCV000636520 pathogenic Bardet-Biedl syndrome 2017-03-07 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 2 of the BBS10 mRNA (c.2030delG), causing a frameshift at codon 677. This creates a premature translational stop signal in the last exon of the BBS10 mRNA (p.Gly677Valfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acids of the BBS10 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BBS10-related disease. A different truncation downstream of this variant (p.Val707*) has been determined to be pathogenic (PMID: 25982971, 22773737, 27486776, 20472660). This suggests that deletion of this region of the BBS10 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000667693 SCV000792184 likely pathogenic Bardet-Biedl syndrome 10 2017-06-09 no assertion criteria provided clinical testing

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