ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1891-2A>C (rs1057519027)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000416357 SCV000915073 uncertain significance Bardet-Biedl syndrome 7 2017-06-21 criteria provided, single submitter clinical testing The BBS7 c.1891-2A>C variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. It was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Due to the potential impact of splice acceptor variants and the lack of clarifying evidence, this variant is classified as a variant of uncertain significance but suspicious for pathogenicity for Bardet-Biedl syndrome.
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital RCV000416357 SCV000321073 likely pathogenic Bardet-Biedl syndrome 7 2016-09-21 criteria provided, single submitter clinical testing

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