Submissions for variant NM_000392.5(ABCC2):c.1658C>T (p.Thr553Ile)

gnomAD frequency: 0.00002  dbSNP: rs191954987

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001104152	SCV001260994	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV003311944	SCV004010007	uncertain significance	not provided	2023-05-01	criteria provided, single submitter	clinical testing	ABCC2: PM2
PreventionGenetics, part of Exact Sciences	RCV003973071	SCV004795667	uncertain significance	ABCC2-related condition	2023-11-27	criteria provided, single submitter	clinical testing	The ABCC2 c.1658C>T variant is predicted to result in the amino acid substitution p.Thr553Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0071% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-101567268-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.