ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)

dbSNP: rs267608178
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004325 SCV001163206 pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497325 SCV002805573 pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2022-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002551711 SCV003439987 pathogenic Zellweger spectrum disorders 2022-03-26 criteria provided, single submitter clinical testing This variant is also known as Nt2085-2089delGATAA (I696fs). This premature translational stop signal has been observed in individual(s) with Zellweger syndrome spectrum (PMID: 15542397, 16141001). This variant is present in population databases (rs267608178, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Met695Ilefs*45) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596, 26387595, 31831025). ClinVar contains an entry for this variant (Variation ID: 813403). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473547 SCV004203395 pathogenic Heimler syndrome 1 2023-12-23 criteria provided, single submitter clinical testing

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