ClinVar Miner

Submissions for variant NM_198880.3(QRICH1):c.1954C>T (p.Arg652Ter) (rs1236702036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001194662 SCV001334433 pathogenic Intellectual disability 2020-06-05 criteria provided, single submitter research The stop variant c.1954C>T, p.(Arg652*) in QRICH1 was identified by trio exome sequencing in a boy with global developmental delay, muscular hypotonia, microcephaly, neurodermitis and obstipation. This variant has not been reported in the general population and but has been described as a disease causing previously (PMID: 28692176). The healthy and unrelated parents did not carry the variant, confirming de novo status.
OMIM RCV000627084 SCV000747894 pathogenic VERVERI-BRADY SYNDROME 2018-05-15 no assertion criteria provided literature only

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