ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.124_126del (p.Lys42del)

dbSNP: rs1555209578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000667507 SCV001448284 likely pathogenic Phenylketonuria 2020-10-16 reviewed by expert panel curation The c.124_126del (p.Lys42del) PAH variant has been reported in 2 patients with PAH deficiency, detected with the pathogenic PAH variant p.Arg111Ter (PMID: 30050108) and the likely pathogenic PAH variant c.824C>T (PMID: 27243974). A defect in BH4 metabolism was not excluded. This variant is absent from population databases. The protein length changes as a result of an in-frame deletion in a non-repeat region. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3_strong, PM4, PP4.
Counsyl RCV000667507 SCV000791969 uncertain significance Phenylketonuria 2017-06-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667507 SCV004201961 likely pathogenic Phenylketonuria 2022-11-14 criteria provided, single submitter clinical testing

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