ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.2dup (p.Met1fs) (rs1560706193)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778719 SCV000915075 uncertain significance Bardet-Biedl syndrome 12 2018-10-12 criteria provided, single submitter clinical testing The BBS12 c.2dupT (p.Met1?) variant is predicted to disrupt the initiation codon and thus may interfere with protein expression. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database despite its location in a region of good sequence coverage, so the variant is presumed to be rare. Based on the potential impact of start-lost variants and the lack of clarifying evidence, the p.Met1? 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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