ClinVar Miner

Submissions for variant NM_002857.4(PEX19):c.763dup (p.Met255fs)

gnomAD frequency: 0.00003  dbSNP: rs267608186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000009797 SCV003523259 uncertain significance Peroxisome biogenesis disorder 12A (Zellweger) 2021-12-23 criteria provided, single submitter clinical testing This variant is also known as PEX19A764ins. 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: 9217). This premature translational stop signal has been observed in individual(s) with Zellweger syndrome (PMID: 10051604). This variant is present in population databases (rs267608186, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Met255Asnfs*25) in the PEX19 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the PEX19 protein.
OMIM RCV000009797 SCV000030018 pathogenic Peroxisome biogenesis disorder 12A (Zellweger) 1999-03-02 no assertion criteria provided literature only

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