ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1256A>G (p.Gln419Arg) (rs752255985)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667759 SCV000792259 likely pathogenic Phenylketonuria 2017-06-13 criteria provided, single submitter clinical testing
Invitae RCV000667759 SCV001235761 pathogenic Phenylketonuria 2019-03-08 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 419 of the PAH protein (p.Gln419Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs752255985, ExAC 0.02%). This variant has been observed to be in combination with another PAH variant in several individuals affected with autosomal recessive phenylalanine hydroxylase deficiency (PMID: 18346471, 28982351). ClinVar contains an entry for this variant (Variation ID: 552488). This variant has been reported disrupt the enzymatic activity of the PAH protein (PMID: 21820508, 18346471). For these reasons, this variant has been classified as Pathogenic.

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