ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.2116C>T (p.Gln706Ter)

dbSNP: rs2146852767
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) RCV001579306 SCV001805848 pathogenic Syndromic X-linked intellectual disability Claes-Jensen type 2021-08-18 criteria provided, single submitter clinical testing The Gln369* variant in the KDM5C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Gln369* variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server) and it´s a de novo variant (both maternity and paternity confirmed) in a female patient with the disease and no family history. We interpret Gln369* as a pathogenic variant.

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