ClinVar Miner

Submissions for variant NM_198334.3(GANAB):c.152_153del (p.Arg51fs)

dbSNP: rs752158933
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002479954 SCV002788766 pathogenic Polycystic kidney disease 3 with or without polycystic liver disease 2021-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518546 SCV003439813 pathogenic not provided 2022-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg51Lysfs*21) in the GANAB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GANAB are known to be pathogenic (PMID: 27259053). This variant is present in population databases (rs752158933, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with autosomal dominant polycystic kidney and liver disease (PMID: 27259053). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002518546 SCV005079871 pathogenic not provided 2023-07-07 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28375157, 27259053)
OMIM RCV000239461 SCV000297931 pathogenic POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE 2018-02-22 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003920006 SCV004733488 likely pathogenic GANAB-related disorder 2024-01-24 no assertion criteria provided clinical testing The GANAB c.152_153delGA variant is predicted to result in a frameshift and premature protein termination (p.Arg51Lysfs*21). This variant was reported in two affected siblings and in another unrelated individual with polycystic kidney & liver disease, autosomal dominant (Porath et al. 2016. PubMed ID: 27259053; Besse et al. 2017. PubMed ID: 28375157). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in GANAB are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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