ClinVar Miner

Submissions for variant NM_003968.4(UBA3):c.1261A>G (p.Ile421Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004677715 SCV005181996 uncertain significance not specified 2024-05-26 criteria provided, single submitter clinical testing The c.1261A>G (p.I421V) alteration is located in exon 17 (coding exon 17) of the UBA3 gene. This alteration results from a A to G substitution at nucleotide position 1261, causing the isoleucine (I) at amino acid position 421 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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