ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.313G>T (p.Gly105Cys)

dbSNP: rs747592262
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002251605 SCV002521875 likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. Missense changes are a common disease-causing mechanism. Same nucleotide change resulting in same amino acid change has been previously reported to be associated with UMOD related disorder (PMID: 32954071). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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