ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1312A>G (p.Asn438Asp)

dbSNP: rs1874535103
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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 RCV001200005 SCV001370859 uncertain significance Phenylketonuria 2020-04-17 reviewed by expert panel curation The c.1312A>G (p.Asn438Asp) variant in PAH is not currently reported in the literature. This variant is absent from population databases (PM2). Computation evidence for this variant is conflicting. It is predicted damaging by SIFT, benign by PolyPhen2, disease causing by MutationTaster, and REVEL = 0.671. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2.

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