ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.839G>A (p.Arg280His)

gnomAD frequency: 0.00006  dbSNP: rs758678654
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596237 SCV000702227 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000795348 SCV000934804 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 300 of the PEX10 protein (p.Arg300His). This variant is present in population databases (rs758678654, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 497613). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV003302910 SCV004003729 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.899G>A (p.R300H) alteration is located in exon 5 (coding exon 5) of the PEX10 gene. This alteration results from a G to A substitution at nucleotide position 899, causing the arginine (R) at amino acid position 300 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000596237 SCV005368901 uncertain significance not provided 2023-06-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001272151 SCV001453846 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004751609 SCV005349786 uncertain significance PEX10-related disorder 2024-03-09 no assertion criteria provided clinical testing The PEX10 c.899G>A variant is predicted to result in the amino acid substitution p.Arg300His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.037% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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