ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.443G>T (p.Gly148Val)

dbSNP: rs1555205655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000667958 SCV001572854 likely pathogenic Phenylketonuria 2020-01-26 reviewed by expert panel curation The c.443G>T (p.Gly148Val) variant in PAH has been reported in multiple individuals with PKU (BH4 deficiency excluded). (PMID: 27121329, 26503515). This variant is absent in population databases (PM2). This variant was detected in trans with pathogenic variant p.Ser349Pro. Computational evidence supports a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3, PP3.
Counsyl RCV000667958 SCV000792490 uncertain significance Phenylketonuria 2017-06-27 criteria provided, single submitter clinical testing

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