ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.960G>C (p.Lys320Asn)

dbSNP: rs199475615
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, University Hospital Muenster 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
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE 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

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