ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) (rs878855095)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000230074 SCV000607352 not provided Bardet-Biedl syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000778336 SCV000914533 uncertain significance Bardet-Biedl syndrome 1 2018-02-06 criteria provided, single submitter clinical testing The BBS1 c.416G>A (p.Trp139Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. 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 reported at a frequency of 0.000083 in the African population from the Genome Aggregation Database, however this is based on two alleles so the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained 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.
Invitae RCV000230074 SCV000290795 pathogenic Bardet-Biedl syndrome 2018-07-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp139*) in the BBS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BBS1-related disease. ClinVar contains an entry for this variant (Variation ID: 241521). Loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255). For these reasons, this variant has been classified as Pathogenic.

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