ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn)

gnomAD frequency: 0.00020  dbSNP: rs143641292
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002251351 SCV000395521 benign Familial juvenile hyperuricemic nephropathy type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV002520990 SCV003280689 benign not provided 2023-12-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002520990 SCV004141248 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing UMOD: BP4
Ambry Genetics RCV004021646 SCV004977866 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The c.1742C>A (p.T581N) alteration is located in exon 9 (coding exon 8) of the UMOD gene. This alteration results from a C to A substitution at nucleotide position 1742, causing the threonine (T) at amino acid position 581 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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