ClinVar Miner

Submissions for variant NM_005850.5(SF3B4):c.1060dup (p.Arg354fs)

dbSNP: rs782357237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247616 SCV002520005 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556235 SCV004291992 pathogenic not provided 2023-08-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 208831). This frameshift has been observed in individual(s) with Nager syndrome (PMID: 22541558, 24003905, 27622494). In at least one individual the variant was observed to be de novo. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change results in a frameshift in the SF3B4 gene (p.Arg354Profs*132). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 71 amino acid(s) of the SF3B4 protein and extend the protein by 60 additional amino acid residues.
Clinical Genetics Research Group, University of Calgary RCV000190851 SCV000245733 pathogenic Nager syndrome 2012-09-07 no assertion criteria provided research

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