ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.302C>A (p.Ser101Ter)

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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 RCV003726147 SCV004525706 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser101*) in the UMOD gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in UMOD cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with UMOD-related conditions. 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.
Fulgent Genetics, Fulgent Genetics RCV005013144 SCV005638547 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2024-04-24 criteria provided, single submitter clinical testing

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