ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)

dbSNP: rs370483961
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075087 SCV001240698 pathogenic Retinal dystrophy 2018-07-16 criteria provided, single submitter clinical testing
Invitae RCV001377625 SCV001575007 likely pathogenic Zellweger spectrum disorders 2022-03-08 criteria provided, single submitter clinical testing 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. 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"). ClinVar contains an entry for this variant (Variation ID: 217429). This missense change has been observed in individual(s) with a peroxisomal biogenesis disorder, Zellweger syndrome spectrum (PMID: 26387595). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs370483961, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 581 of the PEX1 protein (p.Arg581Pro).
Fulgent Genetics, Fulgent Genetics RCV002500626 SCV002809821 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2021-10-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000201302 SCV004203303 likely pathogenic Heimler syndrome 1 2023-08-14 criteria provided, single submitter clinical testing
OMIM RCV000201302 SCV000256090 pathogenic Heimler syndrome 1 2015-10-01 no assertion criteria provided literature only
Natera, Inc. RCV001377625 SCV002076892 likely pathogenic Zellweger spectrum disorders 2020-10-16 no assertion criteria provided clinical testing

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