ClinVar Miner

Submissions for variant NM_000318.2(PEX2):c.339_345delCAGGTGG (p.Arg114Terfs) (rs764771123)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000310327 SCV000487609 likely pathogenic Peroxisome biogenesis disorder 5a (zellweger) 2016-08-16 criteria provided, single submitter clinical testing
Counsyl RCV000410454 SCV000487610 likely pathogenic Peroxisome biogenesis disorder 5B 2016-08-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726022 SCV000341287 pathogenic not provided 2016-04-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587540 SCV000696557 pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2017-04-28 criteria provided, single submitter clinical testing Variant summary: The PEX2 c.339_345delCAGGTGG (p.Arg114fs) variant results in a premature termination codon, predicted to cause a truncated or absent PEX2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. LCA has classified another downstream truncation variant, c.355C>T (p.Arg119X) as pathogenic. This variant was found in 3/121458 control chromosomes at a frequency of 0.0000247, which does not exceed the estimated maximal expected allele frequency of a pathogenic PEX2 variant (0.001118). A publication has cited the variant in two individuals, one homozygous and one assumed compound heterozygous, diagnosed with ZS (Ebberink_2010). In addition, multiple clinical diagnostic laboratories classified this variant as "likely pathogenic/pathogenic. Taken together, this variant is classified as "Pathogenic."

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