ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3396C>T (p.Gly1132=)

gnomAD frequency: 0.00001  dbSNP: rs782725826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373875 SCV001570607 benign Intellectual disability, X-linked 1 2022-08-09 criteria provided, single submitter clinical testing
Kids Neuroscience Centre, Sydney Children's Hospitals Network RCV001373875 SCV001571539 uncertain significance Intellectual disability, X-linked 1 criteria provided, single submitter clinical testing No evidence for mis-splicing of IQSEC2 transcripts in mRNA from whole blood. RT-PCR provided evidence for normal splicing of the IQSEC2 c.3396T variant allele as inferred by robust heterozygous expression of the c.3396T (variant) and c.3396C (reference) alleles in the unaffected mother and no observed mis-splicing in the hemizygous proband.

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