ClinVar Miner

Submissions for variant NM_006565.4(CTCF):c.782-2A>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV004787556 SCV005402668 pathogenic Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2024-11-20 criteria provided, single submitter clinical testing This variant was detected in multiple affected family members (two brothers and their mother) with variable phenotypic abnormalities, including intestinal abnormalities, kidney malfunction, visual abnormalities, intellectual impairment and behavioral abnormalities. The relevant medical/scientific publications report on families with transmission of causative loss-of-function CTCF gene variants, including variants affecting the canonical sequence of splice donor or acceptor sites. They provide an evidence of incomplete penetrance and variable expressivity of related phenotypic features (PMID:23746550;31239556). The loss-of-function variants affecting the CTCF gene are well documented as a molecular cause of "autosomal dominant intellectual developmental disorder-21" (OMIM:615502). To conclude, the variant is classified as pathogenic (ACMG PVS1, PM2, PP1).

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