ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.806G>T (p.Gly269Val)

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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 RCV004969808 SCV005536097 uncertain significance Inborn genetic diseases 2024-11-12 criteria provided, single submitter clinical testing The c.806G>T (p.G269V) alteration is located in exon 3 (coding exon 2) of the UMOD gene. This alteration results from a G to T substitution at nucleotide position 806, causing the glycine (G) at amino acid position 269 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006607 SCV005638508 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2024-01-08 criteria provided, single submitter clinical testing

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