ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)

gnomAD frequency: 0.00028  dbSNP: rs754130942
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000350916 SCV000337369 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
Invitae RCV001277300 SCV001213146 likely benign Zellweger spectrum disorders 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480020 SCV002793103 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2022-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165737 SCV003886620 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.3106G>T (p.A1036S) alteration is located in exon 20 (coding exon 20) of the PEX1 gene. This alteration results from a G to T substitution at nucleotide position 3106, causing the alanine (A) at amino acid position 1036 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000350916 SCV004224038 uncertain significance not provided 2022-11-14 criteria provided, single submitter clinical testing PP3, PM2
Natera, Inc. RCV001277300 SCV001464241 uncertain significance Zellweger spectrum disorders 2017-08-09 no assertion criteria provided clinical testing

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