ClinVar Miner

Submissions for variant NM_004813.4(PEX16):c.578A>G (p.Gln193Arg)

gnomAD frequency: 0.00003  dbSNP: rs761839307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732924 SCV000860923 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855697 SCV002162964 uncertain significance Peroxisome biogenesis disorder 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 193 of the PEX16 protein (p.Gln193Arg). This variant is present in population databases (rs761839307, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with PEX16-related conditions. ClinVar contains an entry for this variant (Variation ID: 596942). 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 PEX16 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 RCV004649306 SCV005153233 uncertain significance Inborn genetic diseases 2024-04-04 criteria provided, single submitter clinical testing The c.578A>G (p.Q193R) alteration is located in exon 7 (coding exon 7) of the PEX16 gene. This alteration results from a A to G substitution at nucleotide position 578, causing the glutamine (Q) at amino acid position 193 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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