ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.703C>A (p.Gln235Lys)

dbSNP: rs1237792711
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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 RCV001897774 SCV002157455 uncertain significance Phenylketonuria 2023-08-10 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PAH protein function. 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. ClinVar contains an entry for this variant (Variation ID: 1384686). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 235 of the PAH protein (p.Gln235Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PAH-related conditions.

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