ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.202A>G (p.Arg68Gly)

dbSNP: rs199475639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001543636 SCV001762304 pathogenic Phenylketonuria 2020-07-02 reviewed by expert panel curation The c.202A>G (p.Arg68Gly) variant in PAH has been reported in multiple individuals with PKU (BH4 deficiency excluded). (PMID: 21147011). This variant is absent in population databases. This variant was detected with multiple pathogenic variants: R243Q (PMID: 10495930); p.R408W (3 patients including 2 siblings); c.842+1G>A (2 patients) PMID: 24350308. Computational prediction tools and conservation analysis support a deleterious effect on the protein. Another missense variant at the same amino acid (p.Arg68Ser) is pathogenic. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM3_strong, PM2, PM5, PP4_Moderate, PP3, PP1.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088870 SCV000119466 not provided not provided no assertion provided not provided

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