ClinVar Miner

Submissions for variant NM_000097.7(CPOX):c.1277+3A>G

gnomAD frequency: 0.00002  dbSNP: rs370245685
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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 RCV003555878 SCV004293134 uncertain significance not provided 2023-09-19 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the CPOX gene. It does not directly change the encoded amino acid sequence of the CPOX protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs370245685, gnomAD 0.005%). This variant has been observed in individual(s) with autosomal recessive harderoporphyria (PMID: 9454777). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 457). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 6, but is expected to preserve the integrity of the reading-frame (PMID: 9454777). 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.
OMIM RCV000000486 SCV000020635 pathogenic Harderoporphyria 1998-02-15 no assertion criteria provided literature only

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