ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.162G>A (p.Trp54Ter) (rs199948079)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409663 SCV000485411 likely pathogenic Homocystinuria due to CBS deficiency 2015-12-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000409663 SCV000914973 uncertain significance Homocystinuria due to CBS deficiency 2017-11-20 criteria provided, single submitter clinical testing The CBS c.162G>A (p.Trp54Ter) variant results in premature termination of the protein and has not been identified in the literature in association with homocystinuria. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium or the Genome Aggregation Database. 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 homocystinuria. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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