Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002238569 | SCV002511503 | uncertain significance | not specified | 2022-04-27 | criteria provided, single submitter | clinical testing | Variant summary: ABCB4 c.3367G>A (p.Asp1123Asn) results in a conservative amino acid change located in the ABC transporter-like, ATP-binding domain (IPR003439) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251362 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3367G>A has been reported in the literature as a non-informative genotype within a cohort of 509 Middle Eastern families with suspected Mendelian disease undergoing clinical exome sequencing (example, Al-Dewik_2019). These report(s) do not provide unequivocal conclusions about association of the variant with Autosomal Recessive Familial Intrahepatic Cholestasis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Gene |
RCV003164344 | SCV003915048 | uncertain significance | not provided | 2023-02-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30919572) |