ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.1052del (p.Ser351fs)

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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 RCV003821308 SCV004626417 pathogenic not provided 2023-02-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ABCC2-related conditions. This variant is present in population databases (rs758934998, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Ser351Metfs*40) in the ABCC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC2 are known to be pathogenic (PMID: 9185779, 16549534, 16952291).

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