ClinVar Miner

Submissions for variant NM_182641.4(BPTF):c.2598dup (p.Glu867fs)

dbSNP: rs753044214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623825 SCV000740686 pathogenic Inborn genetic diseases 2017-09-13 criteria provided, single submitter clinical testing
Mendelics RCV002248819 SCV002517944 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV002254937 SCV002526198 pathogenic not provided 2022-06-10 criteria provided, single submitter clinical testing Reported as de novo in an individual with multiple congenital anomalies in a study on candidate genes, however, specific clinical information was not provided (Farwell Hagman et al., 2017); please note this variant is referred to as E867Rfs*23 using alternate nomenclature; 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; This variant is associated with the following publications: (PMID: 27513193, 26899553)

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