ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.707-12_711del

dbSNP: rs1555204492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632883 SCV000754084 pathogenic Phenylketonuria 2023-02-09 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 7 (c.707-12_711del) of the PAH gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PAH-related conditions. ClinVar contains an entry for this variant (Variation ID: 527863). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000632883 SCV004209683 likely pathogenic Phenylketonuria 2023-04-13 criteria provided, single submitter clinical testing

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