ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.4532dup (p.Ile1512fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005167262 SCV005804356 uncertain significance not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1512Aspfs*8) in the ABCC2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 34 amino acid(s) of the ABCC2 protein. This variant is present in population databases (rs751065868, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ABCC2-related conditions. This variant disrupts the C-terminus of the ABCC2 protein. Other variant(s) that disrupt this region (p.Ile1513*) have been observed in individuals with ABCC2-related conditions (PMID: 31544333). This suggests that this may be a clinically significant region of the protein. 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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