ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.868C>G (p.His290Asp)

gnomAD frequency: 0.00002  dbSNP: rs61752094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668280 SCV000792854 uncertain significance Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 2017-07-18 criteria provided, single submitter clinical testing
Invitae RCV001221744 SCV001393806 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2021-07-14 criteria provided, single submitter clinical testing This sequence change replaces histidine with aspartic acid at codon 310 of the PEX10 protein (p.His310Asp). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with Zellweger syndrome (PMID: 15542397). This variant is also known as Nt870 (H290D). ClinVar contains an entry for this variant (Variation ID: 552930). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant disrupts the p.His310 amino acid residue in PEX10. Other variant(s) that disrupt this residue have been observed in individuals with PEX10-related conditions (PMID: 9683594, 15542397), which suggests that this may be a clinically significant amino acid residue. 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.
Baylor Genetics RCV003472095 SCV004201394 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger) 2023-09-20 criteria provided, single submitter clinical testing

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