ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) (rs672601379)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246925 SCV001420317 likely pathogenic Bardet-Biedl syndrome 2019-09-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BBS7 gene (p.Leu656Profs*18). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acids of the BBS7 protein. This variant is present in population databases (rs746195596, ExAC 0.01%). This variant has been observed in combination with another BBS7 variant in an individual with Bardet-Biedl syndrome (PMID: 20177705). It has also been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). This variant disrupts the C-terminus of the BBS7 protein. Other variant(s) that disrupt this region (p.Lys662Asnfs*6) have been observed in an individual with BBS7-related conditions (Invitae). This suggests that this may be a clinically significant region of the protein. 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.
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology RCV000149506 SCV000196146 pathogenic Bardet-Biedl syndrome 7 2014-01-01 no assertion criteria provided clinical testing Study of a family where 2 children had clinical signs of Bardet-Biedl syndrome. Both affected children had homozygous mutation while their parents and healthy sib were heterozygous carriers

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