ClinVar Miner

Submissions for variant NM_003588.3(CUL4B):c.1007_1011del (p.Ile336fs) (rs1085307760)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489216 SCV000577249 pathogenic not provided 2017-04-06 criteria provided, single submitter clinical testing The c.1007_1011delTTATA variant in the CUL4B gene has been reported previously in families with X-linked intellectual disability (Tarpey et al., 2007; Vulto-van Silfhout et al., 2015). The c.1007_1011delTTATA variant causes a frameshift starting with codon Isoleucine 336, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Ile336LysfsX2. Functional studies on patient-derived cells demonstrate that this variant significantly reduces CUL4B gene expression (Kerzendorfer et al., 2010). The c.1007_1011delTTATA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1007_1011delTTATA as a pathogenic variant.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000590902 SCV000700148 pathogenic Syndromic X-linked mental retardation, Cabezas type 2017-04-01 criteria provided, single submitter clinical testing

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