ClinVar Miner

Submissions for variant NM_006565.4(CTCF):c.1342C>T (p.Arg448Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV004723637 SCV005326519 likely pathogenic Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2024-08-14 criteria provided, single submitter clinical testing The c.1342C>T variant is not present in publicly available population databases like 1000 Genomes, EVS, Indian Exome Database or our in-house exome database. This variant is present in ExAC and gnomAD at low frequencies. This variant has been previously reported in an individual with nodular medulloblastoma [PMID: 30419952]. In-silico pathogenicity prediction programs like MutationTaster2021, CADD, Franklin, Varsome etc predicted this variant to be likely deleterious. This variant creates a premature translational stop signal at the 448th amino acid position of the wild-type transcript that may either result in translation of a truncated protein or cause nonsense mediated decay of the mRNA. This variant is located in a mutational hotspot region of the gene and a missense variant in the same position (Arg448Gln) has been previously reported in patients affected with neurodevelopmental disorders [PMID: 31239556, 33004838].

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