ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.1813del (p.Asp605fs)

dbSNP: rs2074374579
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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 RCV001241371 SCV001414385 pathogenic Intellectual disability, X-linked 1 2019-11-03 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 not been reported in the literature in individuals with IQSEC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp605Thrfs*2) in the IQSEC2 gene. It is expected to result in an absent or disrupted protein product.

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