ClinVar Miner

Submissions for variant NM_001206979.2(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys)

dbSNP: rs879255644
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000240839 SCV000258398 pathogenic Progressive familial intrahepatic cholestasis type 1 2015-12-17 criteria provided, single submitter clinical testing This variant was found in compound heterozygous status with another exonic deletion in two affected members of a Caucasian family
OMIM RCV000239480 SCV000297937 pathogenic Cholestasis, progressive familial intrahepatic, 5 2016-07-27 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004754355 SCV005341232 uncertain significance NR1H4-related disorder 2024-08-26 no assertion criteria provided clinical testing The NR1H4 c.419_420insAAA variant is predicted to result in an in-frame amino acid insertion (p.Tyr139_Asn140insLys). This variant was reported in the compound heterozygous state with another exonic deletion in two related individuals with familial intrahepatic cholestasis (Gomez-Ospina et al 2016. PubMed ID: 26888176). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant has interpretations of pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/219162/). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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