ClinVar Miner

Submissions for variant NM_016327.3(UPB1):c.357del (p.Ala120fs)

dbSNP: rs755693951
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002265201 SCV002546839 uncertain significance not provided 2022-01-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002265201 SCV003019235 pathogenic not provided 2022-06-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with UPB1-related conditions. This variant is present in population databases (rs755693951, gnomAD 0.05%). This sequence change creates a premature translational stop signal (p.Ala120Hisfs*64) in the UPB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in UPB1 are known to be pathogenic (PMID: 15385443, 22525402).

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