ClinVar Miner

Submissions for variant NM_000311.5(PRNP):c.443G>A (p.Arg148His)

gnomAD frequency: 0.00001  dbSNP: rs181348299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002009625 SCV002307255 likely pathogenic Huntington disease-like 1 2022-09-15 criteria provided, single submitter clinical testing This missense change has been observed in individuals with clinical features of genetic prion disease (PMID: 15776279, 16314483, 26488179, 26791950). ClinVar contains an entry for this variant (Variation ID: 1507942). 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 PRNP protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant is present in population databases (rs181348299, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 148 of the PRNP protein (p.Arg148His).
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV003324843 SCV004031053 likely pathogenic Inherited Creutzfeldt-Jakob disease 2023-08-30 criteria provided, single submitter clinical testing

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