ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter)

dbSNP: rs122468181
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760391 SCV000890262 pathogenic not provided 2023-06-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 54 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17704778, 22957832, 19377476, 25525159, 26012578, 34356170, 33004838)
OMIM RCV000012153 SCV000032387 pathogenic Syndromic X-linked intellectual disability 14 2013-06-01 no assertion criteria provided literature only

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