ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)

gnomAD frequency: 0.00003  dbSNP: rs724160001
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Total submissions: 6
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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 (Zellweger); Peroxisome biogenesis disorder 6B 2017-10-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728635 SCV000856235 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001246837 SCV001420224 likely pathogenic Peroxisome biogenesis disorder, complementation group 7 2024-06-22 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 331 of the PEX10 protein (p.Arg331Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individuals with Zellweger Syndrome Spectrum (PMID: 20695019, 27230853). It has also been observed to segregate with disease in related individuals. This variant is also known as c.932G>A, p.Arg311Gln. ClinVar contains an entry for this variant (Variation ID: 162433). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Baylor Genetics RCV003474800 SCV004201405 pathogenic Peroxisome biogenesis disorder 6A (Zellweger) 2024-03-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000675089 SCV005641504 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 2024-05-29 criteria provided, single submitter clinical testing
OMIM RCV000149811 SCV000196635 pathogenic Peroxisome biogenesis disorder 6B 2010-08-01 no assertion criteria provided literature only

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