ClinVar Miner

Submissions for variant NM_198334.3(GANAB):c.490C>T (p.Arg164Ter)

dbSNP: rs754785664
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001794664 SCV002032533 pathogenic not provided 2022-12-09 criteria provided, single submitter clinical testing Nonsense 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 a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002503278 SCV002813225 likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease 2021-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001794664 SCV002945998 pathogenic not provided 2022-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg164*) 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 (rs754785664, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1327722). This variant has not been reported in the literature in individuals affected with GANAB-related conditions.

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