ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile)

gnomAD frequency: 0.00001  dbSNP: rs768138709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799836 SCV000939518 uncertain significance Autosomal recessive polycystic kidney disease 2022-06-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2950 of the PKHD1 protein (p.Val2950Ile). This variant is present in population databases (rs768138709, gnomAD 0.06%), including at least one homozygous and/or hemizygous individual. 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: 645696). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Genome-Nilou Lab RCV001579048 SCV001806440 uncertain significance Polycystic kidney disease 4 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000799836 SCV001455242 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-24 no assertion criteria provided clinical testing

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