ClinVar Miner

Submissions for variant NM_138927.4(SON):c.5717_5720del (p.Arg1906fs)

dbSNP: rs1382415023
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599529 SCV000710055 pathogenic not provided 2025-02-06 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; Reported as a de novo variant in a patient with multiple congenital anomalies with or without neurodevelopmental symptoms; however, detailed clinical information was not provided (PMID: 27513193); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27513193)
Ambry Genetics RCV000623898 SCV000740872 pathogenic Inborn genetic diseases 2016-09-19 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001809694 SCV002059793 pathogenic ZTTK syndrome 2019-07-16 criteria provided, single submitter clinical testing

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