ClinVar Miner

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

dbSNP: rs1236702036
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Total submissions: 4
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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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000627084 SCV002044402 pathogenic Ververi-Brady syndrome 2021-12-21 criteria provided, single submitter research
GeneDx RCV002225697 SCV002504456 pathogenic not provided 2021-01-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28692176, 33009816, 28135719, 28191890, 31785789)
OMIM RCV000627084 SCV000747894 pathogenic Ververi-Brady syndrome 2021-06-04 no assertion criteria provided literature only

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