ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.538C>G (p.Leu180Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003747576 SCV004547625 uncertain significance Autosomal dominant polycystic kidney disease 2023-10-14 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 180 of the PKD2 protein (p.Leu180Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PKD2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Fulgent Genetics, Fulgent Genetics RCV005040486 SCV005667912 uncertain significance Polycystic kidney disease 2 2024-06-18 criteria provided, single submitter clinical testing

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