ClinVar Miner

Submissions for variant NM_001032382.2(PQBP1):c.539G>A (p.Arg180His)

gnomAD frequency: 0.00001  dbSNP: rs907427275
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001263095 SCV001440920 likely benign Intellectual disability, mild 2020-10-29 criteria provided, single submitter clinical testing PM1 + PM2 + PP3 + BS2 + BP1 Observed in an healthy man in the family.
Labcorp Genetics (formerly Invitae), Labcorp RCV002541603 SCV003466238 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 180 of the PQBP1 protein (p.Arg180His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PQBP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 983218). 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 PQBP1 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.
Ambry Genetics RCV002537647 SCV003534713 uncertain significance Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing The c.539G>A (p.R180H) alteration is located in exon 4 (coding exon 4) of the PQBP1 gene. This alteration results from a G to A substitution at nucleotide position 539, causing the arginine (R) at amino acid position 180 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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