ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1237C>G (p.Arg413Gly)

dbSNP: rs62644467
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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 RCV001269319 SCV001448670 uncertain significance Phenylketonuria 2020-07-23 reviewed by expert panel curation The c.1237C>G (p.Arg413Gly) variant in PAH has been reported in the literature according to BioPKU in PMID: 21154324 (Wang et al., 2010), however article is written in Chinese, and there is no access to the full translated article. This variant is absent from population databases (PM2), and is predicted deleterious by SIFT, PolyPhen2, MutationTaster, and REVEL = 0.958 (PP3). This variant is at same codon as c.1237C>A (p.R413S) curated as Pathogenic by ClinGen PAH VCEP (ClinVarID:102575) (PM5). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM5, PP3.

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