ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2074del (p.Ala692fs)

dbSNP: rs2042206485
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227130 SCV001399472 pathogenic not provided 2019-09-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SETD5 are known to be pathogenic (PMID: 24680889). This variant has not been reported in the literature in individuals with SETD5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala692Leufs*12) in the SETD5 gene. It is expected to result in an absent or disrupted protein product.

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