ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1949del (p.Gly650fs) (rs769028262)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665076 SCV000789136 likely pathogenic Bardet-Biedl syndrome 10 2017-01-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000665076 SCV000914601 uncertain significance Bardet-Biedl syndrome 10 2018-10-25 criteria provided, single submitter clinical testing The BBS10 c.1949delG (p.Gly650GlufsTer10) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene and cDNA change. No publications were found based on this search. The variant is reported at a frequency of 0.00035 in the East Asian population of the Exome Aggregation Consortium. Based on the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Bardet-Biedl syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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