ClinVar Miner

Submissions for variant NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter)

dbSNP: rs2106802170
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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 RCV001800239 SCV002044404 pathogenic Ververi-Brady syndrome 2021-12-21 criteria provided, single submitter research
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001800239 SCV002768682 uncertain significance Ververi-Brady syndrome 2020-05-21 criteria provided, single submitter clinical testing A heterozygous nonsense variant, NM_017730.3(QRICH1):c.2216G>A, has been identified in exon 11 of 11 of the QRICH1 gene. This nonsense variant is predicted to create a change of a tryptophan to a stop at amino acid position 739 of the protein; NP_060200.2(QRICH1):p.(Trp739*), resulting in loss of protein function through truncation, including part of the uncharacterised DUF3504 domain. The variant is absent in population databases (gnomAD). This variant has not been previously reported in clinical cases and no pathogenic variants have been reported downstream (ClinVar, Decipher). Analysis of parental samples indicated that this variant is de novo. Based on the information available at the time of curation, this variant has been classified as a VUS with POTENTIAL CLINICAL RELEVANCE.

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