ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2870G>A (p.Arg957Gln)

gnomAD frequency: 0.00001  dbSNP: rs370201505
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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 RCV001905023 SCV002128451 uncertain significance Peroxisome biogenesis disorder 2022-10-14 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 957 of the PEX6 protein (p.Arg957Gln). This variant is present in population databases (rs370201505, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1363664). 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 PEX6 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 RCV004651755 SCV005153259 uncertain significance Inborn genetic diseases 2024-04-17 criteria provided, single submitter clinical testing The c.2870G>A (p.R957Q) alteration is located in exon 17 (coding exon 17) of the PEX6 gene. This alteration results from a G to A substitution at nucleotide position 2870, causing the arginine (R) at amino acid position 957 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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