ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.2504G>A (p.Gly835Glu)

gnomAD frequency: 0.00002  dbSNP: rs369677401
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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) RCV000597720 SCV000708948 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003424167 SCV004117469 uncertain significance ABCC2-related condition 2022-10-07 criteria provided, single submitter clinical testing The ABCC2 c.2504G>A variant is predicted to result in the amino acid substitution p.Gly835Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-101578910-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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