ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2347-1G>A

dbSNP: rs1553629676
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578558 SCV000681062 pathogenic not provided 2025-01-09 criteria provided, single submitter clinical testing Identified as a de novo variant in a patient with a developmental disorder but the patient also had de novo variants in other genes (PMID: 28135719); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33144682, 31785789, 33249554, 33057194, 35982159, 28135719)

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