ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.1860T>A (p.Asp620Glu)

gnomAD frequency: 0.00075  dbSNP: rs141413284
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000340687 SCV000359786 uncertain significance Dubin-Johnson syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga) RCV000597846 SCV000702841 uncertain significance not provided 2018-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243059 SCV003952901 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.1860T>A (p.D620E) alteration is located in exon 14 (coding exon 14) of the ABCC2 gene. This alteration results from a T to A substitution at nucleotide position 1860, causing the aspartic acid (D) at amino acid position 620 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Preventiongenetics, part of Exact Sciences RCV003409463 SCV004116059 uncertain significance ABCC2-related condition 2023-05-16 criteria provided, single submitter clinical testing The ABCC2 c.1860T>A variant is predicted to result in the amino acid substitution p.Asp620Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-101569935-T-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Mayo Clinic Laboratories, Mayo Clinic RCV000597846 SCV004225303 uncertain significance not provided 2022-10-06 criteria provided, single submitter clinical testing BP4

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