ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs)

dbSNP: rs758748151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671229 SCV000796184 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2017-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861804 SCV002291702 uncertain significance Zellweger spectrum disorders 2022-03-03 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 555409). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is present in population databases (rs758748151, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ser1270Lysfs*12) in the PEX1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the PEX1 protein.

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