ClinVar Miner

Submissions for variant NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr)

gnomAD frequency: 0.00371  dbSNP: rs61755050
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000303836 SCV000345907 likely benign not specified 2016-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000886965 SCV001030496 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000886965 SCV001148801 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing NR1H4: PP3, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000886965 SCV005218216 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003920174 SCV004728930 uncertain significance NR1H4-related disorder 2024-04-17 no assertion criteria provided clinical testing The NR1H4 c.518T>C variant is predicted to result in the amino acid substitution p.Met173Thr. This variant has been reported to be associated with intrahepatic cholestasis of pregnancy (Van Mil et al. 2007. PubMed ID: 17681172). This variant is reported in 0.64% of alleles in individuals of European (Non-Finnish) descent in gnomAD including two homozygotes of unknown phenotype, which might be too common to be a highly penetrant cause of disease. Although we suspect that this variant may be benign, 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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