Submissions for variant NM_022437.3(ABCG8):c.1756+6G>A

dbSNP: rs375563605

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000279671	SCV000341112	uncertain significance	not provided	2016-04-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000279671	SCV002107973	uncertain significance	not provided	2023-10-14	criteria provided, single submitter	clinical testing	This sequence change falls in intron 11 of the ABCG8 gene. It does not directly change the encoded amino acid sequence of the ABCG8 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs375563605, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ABCG8-related conditions. ClinVar contains an entry for this variant (Variation ID: 287361). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity	RCV003137896	SCV003822418	uncertain significance	Sitosterolemia 1	2022-10-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003949895	SCV004771015	likely benign	ABCG8-related disorder	2021-06-21	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).