ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)

dbSNP: rs1241995212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714591 SCV000845300 uncertain significance Pigmentary pallidal degeneration 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714592 SCV000845301 uncertain significance Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000714591 SCV004298022 pathogenic Pigmentary pallidal degeneration 2023-08-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg481 amino acid residue in PANK2. Other variant(s) that disrupt this residue have been observed in individuals with PANK2-related conditions (PMID: 16437574; Invitae), which suggests that this may be a clinically significant amino acid residue. 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 expected to disrupt PANK2 protein function. ClinVar contains an entry for this variant (Variation ID: 587442). This missense change has been observed in individual(s) with neurodegeneration with brain iron accumulation (PMID: 23166001). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 481 of the PANK2 protein (p.Arg481Pro).
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000714591 SCV005420635 likely pathogenic Pigmentary pallidal degeneration 2024-10-04 criteria provided, single submitter research PM5,PM2,PP3,PP1

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