ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.694+5G>C

gnomAD frequency: 0.00008  dbSNP: rs557890655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728644 SCV000856244 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000728644 SCV002360970 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000728644 SCV002541822 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165959 SCV003912009 uncertain significance Cardiovascular phenotype 2023-02-28 criteria provided, single submitter clinical testing The c.694+5G>C intronic variant results from a G to C substitution 5 nucleotides after coding exon 5 in the ABCG8 gene. This alteration has been reported in dyslipidemia cohorts (Yang Y et al. Curr Pharm Des, 2019;25:190-200; Kojima N et al. Clin Chim Acta, 2020 Aug;507:11-16; Hu X et al. Gene, 2021 Feb;768:145310). This alteration has also been reported in a sitosterolemia cohort (Xia Y et al. J Clin Lipidol, 2022 Dec;16:40-51). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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