ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.3580C>T (p.Gln1194Ter)

gnomAD frequency: 0.00001  dbSNP: rs559137047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731631 SCV000859475 pathogenic not provided 2018-01-30 criteria provided, single submitter clinical testing
Invitae RCV000731631 SCV004617449 pathogenic not provided 2023-04-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 595943). This variant has not been reported in the literature in individuals affected with ABCC2-related conditions. This variant is present in population databases (rs559137047, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln1194*) 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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