ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.643_644delinsTTT (p.Lys215fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic Medicine,University of Medicine and Pharmacy Victor Babes Timisoara RCV001824282 SCV002073733 pathogenic Bone marrow failure syndrome 3 2022-02-08 no assertion criteria provided clinical testing Null variant observed in compound heterozygosity with another pathogenic variant in a male affected by Bone marrow failure syndrome 3. PVS1 Very Strong: Null variant (frame-shift), in gene DNAJC21 for which loss-of-function is a known mechanism of disease (gene has 9 pathogenic LOF variants and gnomAD Loss-of-Function Observed/Expected = 0.48 is less than 0.755), associated with Bone marrow failure syndrome 3. PM2 Moderate: Variant not found in gnomAD exomes. Variant not found in gnomAD genomes (good gnomAD genomes coverage = 31.6).

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