ClinVar Miner

Submissions for variant NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln)

gnomAD frequency: 0.00032  dbSNP: rs371369186
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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 RCV002025673 SCV002288837 uncertain significance Pigmentary pallidal degeneration 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 532 of the PANK2 protein (p.Arg532Gln). This variant is present in population databases (rs371369186, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1503744). 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. 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 RCV004046089 SCV004999796 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.1595G>A (p.R532Q) alteration is located in exon 6 (coding exon 6) of the PANK2 gene. This alteration results from a G to A substitution at nucleotide position 1595, causing the arginine (R) at amino acid position 532 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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