ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.7126-1G>A (rs930144563)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666273 SCV000790535 likely pathogenic Cohen syndrome 2017-03-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000666273 SCV000915239 uncertain significance Cohen syndrome 2018-11-26 criteria provided, single submitter clinical testing The VPS13B c.7126-1G>A variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. The c.7126-1G>A variant is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database, but this is based on one allele only in a region of good sequence coverage so the variant is presumed to be rare. Due to the potential impact of splice acceptor variants and lack of clarifying evidence, the c.7126-1G>A variant is classified as a variant of unknown significance but suspicious for pathogenicity for Cohen syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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