Submissions for variant NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs) (rs1057517384)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 2

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000409526	SCV000487200	likely pathogenic	Wilson disease	2016-10-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000489522	SCV000577513	pathogenic	not provided	2017-03-27	criteria provided, single submitter	clinical testing	The c.388_389dupGC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.388_389dupGC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.388_389dupGC variant causes a frameshift starting with codon Alanine 131, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Ala131GlnfsX23. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret c.388_389dupGC as a pathogenic variant.

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.