ClinVar Miner

Submissions for variant NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs)

dbSNP: rs1376687924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546229 SCV001765716 pathogenic not provided 2023-03-08 criteria provided, single submitter clinical testing Frameshift 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; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002570672 SCV003545222 pathogenic Inborn genetic diseases 2021-09-20 criteria provided, single submitter clinical testing The c.1149_1150delCT (p.F384Sfs*70) alteration, located in exon 4 (coding exon 2) of the QRICH1 gene, consists of a deletion of 2 nucleotides from position 1149 to 1150, causing a translational frameshift with a predicted alternate stop codon after 70 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001548773 SCV004806707 uncertain significance Ververi-Brady syndrome 2024-03-26 criteria provided, single submitter clinical testing
Gene Discovery Core-Manton Center, Boston Children's Hospital RCV001548773 SCV001768738 pathogenic Ververi-Brady syndrome 2020-02-14 no assertion criteria provided research This variant is interpreted as Pathogenic for Ververi-Brady syndrome; Autosomal Dominant. PVS1- Null variant (nonsense, frameshift, canonical splice sites, initiation codon, single or multiexon deletion) in a gene where LOF is a known mechanism of disease. PS2- De novo (both maternity and paternity confirmed) in a patient with the disease and no family history. PM2- Absent from controls (gnomad). PP3- Multiple lines of computational evidence support a deleterious effect on the gene or gene product.

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