ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1041C>A (p.Tyr347Ter)

dbSNP: rs2151886352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365227 SCV001561490 uncertain significance Nephronophthisis 14 2020-07-01 criteria provided, single submitter clinical testing 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ZNF423 cause disease. This variant has not been reported in the literature in individuals with ZNF423-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr339*) in the ZNF423 gene. It is expected to result in an absent or disrupted protein product.

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