ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile)

gnomAD frequency: 0.00012  dbSNP: rs141972092
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530586 SCV000629915 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1302 of the PKHD1 protein (p.Val1302Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs141972092, ExAC 0.04%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Eurofins Ntd Llc (ga) RCV000730101 SCV000857814 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497077 SCV002791274 uncertain significance Polycystic kidney disease 4 2022-04-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000530586 SCV001463308 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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