ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.60+5G>C

dbSNP: rs62514895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001200018 SCV001370883 pathogenic Phenylketonuria 2020-06-04 reviewed by expert panel curation The c.60+5G>C variant in PAH has been reported in a cohort of Germany PKU/HPA patients (PMID: 10394930) This variant is absent in population databases. Multiple lines of computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PP3.

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