ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter)

gnomAD frequency: 0.00001  dbSNP: rs758732107
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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 RCV000633429 SCV000754653 pathogenic Autosomal recessive polycystic kidney disease 2023-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 528297). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (rs758732107, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln3216*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839).
Baylor Genetics RCV003459514 SCV004204760 pathogenic Polycystic kidney disease 4 2022-11-07 criteria provided, single submitter clinical testing

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