ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) (rs267608246)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666171 SCV000790418 uncertain significance Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 2017-03-20 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198918 SCV001369913 uncertain significance Visual impairment; Bilateral sensorineural hearing impairment 2020-03-19 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PS4,PS3. This variant was detected in heterozygous state.
Invitae RCV001242506 SCV001415598 uncertain significance Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 876 of the PEX6 protein (p.Arg876Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs267608246, ExAC 0.001%). This variant has been observed in individual(s) with an autosomal recessive Zellweger syndrome spectrum disorder (PMID: 19877282). ClinVar contains an entry for this variant (Variation ID: 551183). 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.

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