ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1390C>T (p.Gln464Ter)

dbSNP: rs2041797086
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334744 SCV001527673 pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2018-06-12 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003332323 SCV004040295 pathogenic not provided 2023-03-22 criteria provided, single submitter clinical testing Nonsense 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; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 34906459)

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