ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln)

gnomAD frequency: 0.00003  dbSNP: rs1449945045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063266 SCV001228104 likely benign Intellectual disability, X-linked 1 2024-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001664652 SCV001872881 likely benign not provided 2024-02-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226431 SCV003922779 uncertain significance not specified 2023-03-13 criteria provided, single submitter clinical testing Variant summary: IQSEC2 c.4050C>A (p.His1350Gln) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 83550 control chromosomes (i.e, 1 heterozygous female carrier; gnomAD v2.1.1 Exomes cohort). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4050C>A in individuals affected with Intellectual Disability, X-Linked 1 and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, and all laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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