Submissions for variant NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=)

gnomAD frequency: 0.00045  dbSNP: rs201885528

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000734934	SCV000536322	uncertain significance	not provided	2017-12-14	criteria provided, single submitter	clinical testing	The c.2595 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2595 C>T variant was observed in 0.4%-1.4% of alleles from individuals of mixed American and Puerto Rican background (Lek et al., 2016; 1000 Genomes Project Consortium). This c.2595 C>T nucleotide substitution occurs at a position that is conserved across species. Several in-silico splice prediction models predict that c.2595 C>T does not affect normal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Eurofins Ntd Llc (ga)	RCV000734934	SCV000863114	uncertain significance	not provided	2018-08-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000734934	SCV004281908	benign	not provided	2024-06-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551505	SCV004783553	likely benign	ATP8B1-related disorder	2021-12-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).