ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter)

gnomAD frequency: 0.00001  dbSNP: rs780097121
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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 RCV001004183 SCV003244946 uncertain significance Autosomal recessive polycystic kidney disease 2024-02-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4026*) in the PKHD1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acid(s) of the PKHD1 protein. This variant is present in population databases (rs780097121, 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: 813369). 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.
Baylor Genetics RCV002290983 SCV002583276 uncertain significance Polycystic kidney disease 4 2021-11-03 no assertion criteria provided clinical testing

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