ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1066-10_1070del

dbSNP: rs1592947582
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816461 SCV000956971 likely pathogenic Phenylketonuria 2018-08-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant is a deletion of the genomic region encompassing part of exon 11 (c.1066-10_1070del) of the PAH gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PAH-related disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885).

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