ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5411G>A (p.Arg1804His)

gnomAD frequency: 0.00006  dbSNP: rs151160618
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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) RCV000734169 SCV000862291 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV001475419 SCV001679609 likely benign Autosomal recessive polycystic kidney disease 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535370 SCV003540530 likely benign Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000734169 SCV003918349 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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