ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.390+1G>T

dbSNP: rs1284984423
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235712 SCV001408416 pathogenic not provided 2019-08-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in WDR62 are known to be pathogenic (PMID: 20729831). This variant has been observed in individual(s) with WDR62-related disease (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 4 of the WDR62 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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