ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) (rs370483961)

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Total submissions: 3
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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 syndrome 2020-08-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 581 of the PEX1 protein (p.Arg581Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs370483961, ExAC 0.001%). This variant 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 the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 217429). 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 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 RCV000201302 SCV000256090 pathogenic Heimler syndrome 1 2015-10-01 no assertion criteria provided literature only

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