ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11918C>T (p.Thr3973Ile)

gnomAD frequency: 0.00002  dbSNP: rs773044015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001314007 SCV001504520 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 3973 of the PKHD1 protein (p.Thr3973Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs773044015, ExAC 0.01%). 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.
Natera, Inc. RCV001314007 SCV002075462 uncertain significance Autosomal recessive polycystic kidney disease 2019-04-01 no assertion criteria provided clinical testing

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