ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1194A>C (p.Lys398Asn)

dbSNP: rs199475638
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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 RCV002260487 SCV002540128 uncertain significance Phenylketonuria 2020-05-08 reviewed by expert panel curation Thec.1194A>C (p.Lys398Asn) PAH variant has been reported in at least on mild HPA probrand (PMID: 17096675), having a compound heterozygous genotype with c.442-5C>G. This variant is absent from population databases, including gnomAD, ExAC, 1000 Genomes, or ESP. It is a missense variant predicted deleterious by SIFT (damaging), Polyphen (probably damaging) and MutationTaster (disease causing), with a REVEL score of 0.899. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4.

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