Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000089174 | SCV000329865 | pathogenic | not provided | 2016-10-03 | criteria provided, single submitter | clinical testing | The K320N variant has previously been reported in association with mild PKU and hyperphenylalaninemia and is classified as a BH4 responsive variant (Lücke et al., 2003; Steinfeld et al., 2004; Blau et al., 2004). |
Invitae | RCV000666332 | SCV001391599 | pathogenic | Phenylketonuria | 2024-01-07 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 320 of the PAH protein (p.Lys320Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with PAH-related conditions (PMID: 8659548, 11678552, 12655553, 12655554, 23764561, 24350308; Invitae). ClinVar contains an entry for this variant (Variation ID: 102910). 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 with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV000666332 | SCV002499656 | pathogenic | Phenylketonuria | 2022-03-31 | criteria provided, single submitter | clinical testing | ACMG categories: PS5,PM3,PM7,PP1,PP3,PP5 |
Baylor Genetics | RCV000666332 | SCV004201979 | pathogenic | Phenylketonuria | 2022-05-23 | criteria provided, single submitter | clinical testing | |
De |
RCV000089174 | SCV000119789 | not provided | not provided | no assertion provided | not provided | ||
Counsyl | RCV000666332 | SCV000790605 | likely pathogenic | Phenylketonuria | 2017-10-09 | no assertion criteria provided | clinical testing |