ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3])

dbSNP: rs1554371691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671639 SCV000796632 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2017-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855564 SCV002253416 uncertain significance Zellweger spectrum disorders 2021-12-15 criteria provided, single submitter clinical testing This variant, c.2140_2145dup, results in the insertion of 2 amino acid(s) of the PEX1 protein (p.Ser714_Gln715dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with a Zellweger spectrum disorder (PMID: 32596134). ClinVar contains an entry for this variant (Variation ID: 555759). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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