ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.1602G>T (p.Lys534Asn)

gnomAD frequency: 0.00022  dbSNP: rs149593061
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375624 SCV000359784 uncertain significance Dubin-Johnson syndrome 2018-01-13 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.
Invitae RCV001473723 SCV001677879 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001473723 SCV002541092 uncertain significance not provided 2021-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520523 SCV003709197 uncertain significance Inborn genetic diseases 2022-03-21 criteria provided, single submitter clinical testing The c.1602G>T (p.K534N) alteration is located in exon 12 (coding exon 12) of the ABCC2 gene. This alteration results from a G to T substitution at nucleotide position 1602, causing the lysine (K) at amino acid position 534 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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