ClinVar Miner

Submissions for variant NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) (rs724160001)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675089 SCV000800607 uncertain significance Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2017-10-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728635 SCV000856235 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV001246837 SCV001420224 likely pathogenic Peroxisome biogenesis disorder, complementation group 7 2019-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 331 of the PEX10 protein (p.Arg331Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs724160001, ExAC 0.05%). This variant has been observed in combination with another PEX10 variant in several individuals with clinical features of Zellweger Syndrome Spectrum, and to segregate with disease in a family (PMID: 27230853, 20695019). This variant is also known as c.932G>A, p.Arg311Gln in the literature. ClinVar contains an entry for this variant (Variation ID: 162433). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000149811 SCV000196635 pathogenic Peroxisome biogenesis disorder 6B 2010-08-01 no assertion criteria provided literature only

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