ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3387C>A (p.Tyr1129Ter)

dbSNP: rs374220843
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686813 SCV000814348 pathogenic Intellectual disability, X-linked 1 2020-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IQSEC2 are known to be pathogenic (PMID: 21686261, 26793055, 27665735). This variant has been observed in individual(s) with seizures and intellectual disability (PMID: 27652284, 30206421). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 566884). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1129*) in the IQSEC2 gene. It is expected to result in an absent or disrupted protein product.

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