ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser)

gnomAD frequency: 0.00021  dbSNP: rs56296335
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000390732 SCV000345637 uncertain significance not provided 2017-11-09 criteria provided, single submitter clinical testing
GeneDx RCV000390732 SCV001994704 uncertain significance not provided 2019-03-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance, but additional evidence is not available (SCV000345637.4; Landrum et al., 2016)
Fulgent Genetics, Fulgent Genetics RCV002504026 SCV002815757 uncertain significance Dubin-Johnson syndrome 2022-02-25 criteria provided, single submitter clinical testing
Invitae RCV000390732 SCV003500934 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1450 of the ABCC2 protein (p.Ala1450Ser). This variant is present in population databases (rs56296335, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with ABCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 290967). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
PreventionGenetics, part of Exact Sciences RCV003930193 SCV004739439 likely benign ABCC2-related condition 2022-04-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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