ClinVar Miner

Submissions for variant NM_014712.3(SETD1A):c.1938C>G (p.Tyr646Ter)

dbSNP: rs770913157
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SNPedia RCV000210257 SCV000266354 pathogenic Schizophrenia 2016-03-14 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV001383757 SCV001583016 pathogenic not provided 2020-05-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SETD1A are known to be pathogenic (PMID: 32346159). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with SETD1A-related disease (PMID: 26974950, Invitae). In at least one individual the variant was observed to be de novo. This variant is also known as 16:30977140_C/G in the literature. ClinVar contains an entry for this variant (Variation ID: 224654). This sequence change creates a premature translational stop signal (p.Tyr646*) in the SETD1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).

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