ClinVar Miner

Submissions for variant NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln) (rs144656719)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727533 SCV000523642 uncertain significance not provided 2016-11-16 criteria provided, single submitter clinical testing The R849Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R849Q variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R849Q variant has been observed as homozygous in a single unaffected individual sent for whole exome sequence analysis at GeneDx. The R849Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Eurofins NTD, LLC RCV000727533 SCV000709504 uncertain significance not provided 2018-07-24 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764165 SCV000895167 uncertain significance Cholestasis, progressive familial intrahepatic 1; Cholestasis, intrahepatic, of pregnancy, 1; Cholestasis, benign recurrent intrahepatic 1 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001122546 SCV001281270 uncertain significance Cholestasis, progressive familial intrahepatic 1 2017-05-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV001330098 SCV001521698 uncertain significance Cholestasis, benign recurrent intrahepatic 1 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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