ClinVar Miner

Submissions for variant NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter)

dbSNP: rs397515324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211780 SCV001383337 pathogenic not provided 2019-09-19 criteria provided, single submitter clinical testing Loss-of-function variants in SF3B4 are known to be pathogenic (PMID: 22541558, 23568615). This sequence change creates a premature translational stop signal (p.Arg336*) in the SF3B4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Nager syndrome (PMID: 23568615). ClinVar contains an entry for this variant (Variation ID: 65407). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001211780 SCV002030800 pathogenic not provided 2021-06-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); Nonsense 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; Reported in ClinVar as pathogenic (ClinVar Variant ID# 65407; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 27535533, 23568615)
OMIM RCV000055627 SCV000083852 pathogenic Nager syndrome 2013-08-01 no assertion criteria provided literature only

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