ClinVar Miner

Submissions for variant NM_173602.3(DIP2B):c.2962-2_2962-1del

dbSNP: rs768972285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Genetics, Universidade de São Paulo RCV001261513 SCV001438312 pathogenic Intellectual disability, FRA12A type 2020-10-19 criteria provided, single submitter research The variant was found in heterozygosis in two siblings presenting learning disabilities, speech impairment, and microcephaly.
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) RCV001261513 SCV005043063 uncertain significance Intellectual disability, FRA12A type 2024-05-07 criteria provided, single submitter clinical testing Rare variant (PM2) in a consensus splice site identified in a patient with no neurological phenotype. The variant is also present in her healthy father (BS2). The phenotype caused by heterozygosity of LoF-type variants is not established. In silico analysis predicts that the variant may alter splice processing (PP3).

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