ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.148C>T (p.Gln50Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001869834 SCV002195890 pathogenic not provided 2021-12-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln50*) in the DNAJC21 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAJC21 are known to be pathogenic (PMID: 27346687, 28062395). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DNAJC21-related conditions. For these reasons, this variant has been classified as Pathogenic.
Center of Genomic Medicine,University of Medicine and Pharmacy Victor Babes Timisoara RCV001824280 SCV002073732 pathogenic Bone marrow failure syndrome 3 2022-02-08 no assertion criteria provided clinical testing This null variant has been observed in compound heterozigosity with another pathogenic variant in a patient with Bone marrow failure syndrome 3. PVS2 Very Strong: Null variant (nonsense), in gene DNAJC21 for which loss-of-function is a known mechanism of disease, associated with Bone marrow failure syndrome 3. PM2 Strong: Using strength Strong because the position is highly conserved (phyloP100way = 7.35 is greater than 7.2). Variant not found in gnomAD exomes. Variant not found in gnomAD genomes (good gnomAD genomes coverage = 31.1). PP3 Supporting: Pathogenic computational verdict based on 5 pathogenic predictions from BayesDel_addAF, DANN, EIGEN, FATHMM-MKL and MutationTaster vs no benign predictions.

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