ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.1063G>A (p.Asp355Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004969810 SCV005536099 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.1063G>A (p.D355N) alteration is located in exon 5 (coding exon 4) of the UMOD gene. This alteration results from a G to A substitution at nucleotide position 1063, causing the aspartic acid (D) at amino acid position 355 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006608 SCV005638492 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2024-04-02 criteria provided, single submitter clinical testing

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