ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.1910T>A (p.Ile637Asn)

gnomAD frequency: 0.00008  dbSNP: rs202167250
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356027 SCV001551081 uncertain significance not provided no assertion criteria provided clinical testing The ABCB4 p.Ile637Asn variant was not identified in the literature nor was it identified in ClinVar, Cosmic, or LOVD 3.0. The variant was identified in dbSNP (ID: rs202167250) and in control databases in 32 of 281814 chromosomes at a frequency of 0.0001136 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: South Asian in 16 of 30598 chromosomes (freq: 0.000523), Other in 1 of 7190 chromosomes (freq: 0.000139), European (non-Finnish) in 14 of 128404 chromosomes (freq: 0.000109) and Latino in 1 of 35400 chromosomes (freq: 0.000028), but was not observed in the African, Ashkenazi Jewish, East Asian, and European (Finnish) populations. The variant occurs outside of the splicing consensus sequence and in silico splicing prediction programs (SpliceSiteFinder-like, NNSPLICE, MaxEntScan and GeneSplicer) do not predict a greater than 10% difference in splicing. The p.Ile637 residue is not conserved in mammals and four of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.