Submissions for variant NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met)

gnomAD frequency: 0.00173  dbSNP: rs142573385

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000326654	SCV000334718	uncertain significance	not provided	2018-07-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001104372	SCV001261231	uncertain significance	Dubin-Johnson syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic	RCV000326654	SCV002541100	uncertain significance	not provided	2021-07-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001104372	SCV002779259	uncertain significance	Dubin-Johnson syndrome	2022-03-07	criteria provided, single submitter	clinical testing
Invitae	RCV000326654	SCV003237137	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003391033	SCV004111750	uncertain significance	ABCC2-related condition	2023-10-25	criteria provided, single submitter	clinical testing	The ABCC2 c.4430C>T variant is predicted to result in the amino acid substitution p.Thr1477Met. To our knowledge, this variant has not been reported in individuals ABCC2-related disease. Functional studies of this variant found a modest impact on protein function (Megaraj et al. 2011. PubMed ID: 21691255). This variant is reported in 0.20% of alleles in individuals of European (Non-Finnish) descent in gnomAD, including one homozygous individual (http://gnomad.broadinstitute.org/variant/10-101610475-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen	RCV000326654	SCV004127206	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ABCC2: BP4