ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.3690A>C (p.Arg1230Ser)

gnomAD frequency: 0.00002  dbSNP: rs753282654
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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) RCV000302237 SCV000343305 uncertain significance not provided 2016-06-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004745324 SCV005342608 uncertain significance ABCC2-related disorder 2024-06-04 no assertion criteria provided clinical testing The ABCC2 c.3690A>C variant is predicted to result in the amino acid substitution p.Arg1230Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.042% of alleles in individuals of Latino descent in gnomAD. 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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