ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11237T>G (p.Leu3746Arg)

gnomAD frequency: 0.00002  dbSNP: rs1320401077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001319825 SCV001510585 uncertain significance Autosomal recessive polycystic kidney disease 2022-07-28 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 3746 of the PKHD1 protein (p.Leu3746Arg). This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1020273). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PKHD1 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV001319825 SCV002075488 uncertain significance Autosomal recessive polycystic kidney disease 2020-01-24 no assertion criteria provided clinical testing

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