ClinVar Miner

Submissions for variant NM_000097.7(CPOX):c.488_509delinsAGCTGCTGATTCTGG (p.Val163fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV003994627 SCV004812320 likely pathogenic CPOX-related hereditary coproporphyria 2023-08-01 criteria provided, single submitter clinical testing This complex sequence change in CPOX is a frameshift variant predicted to cause a premature stop codon, p.(Val163Glufs*41), in biologically relevant exon 2/7 leading to nonsense-mediated decay in a gene in which loss-of-function is an established disease mechanism (PMID: 7987309, 8990017, 9843038, 28600349). This variant is absent from the population database gnomAD v2.1 and v3.1. To our knowledge, this variant is novel and has not been previously reported in the relevant scientific literature or databases. Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as LIKELY PATHOGENIC. Following criteria are met: PVS1, PM2_Supporting.

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