ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.169G>A (p.Glu57Lys) (rs140945592)

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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 RCV000721179 SCV000852123 uncertain significance Phenylketonuria 2019-04-26 reviewed by expert panel curation PAH-specific ACMG/AMP criteria applied: PM2: Extremely low frequency. ESP MAF=0.00012.; PP4_Moderate: Detected in a patient with mild HPA. Assessment of the PAH, PTS, and QDPR genes was performed. (PMID:21147011); PM3-supporting: Detected with V388M, pathogenic in ClinVar, but parental testing not performed. (PMID:21147011). In summary this variant meets criteria to be classified as uncertain significance for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PP4_Moderate, PM3_supporting).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078515 SCV000110371 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000078515 SCV001250398 likely pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing

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