ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.791A>G (p.His264Arg)

dbSNP: rs199475580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224584 SCV001396792 uncertain significance Phenylketonuria 2019-06-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with a positive newborn screening result for PAH-related disease (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces histidine with arginine at codon 264 of the PAH protein (p.His264Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.

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