ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.463T>C (p.Trp155Arg) (rs1580526653)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV001004903 SCV001164402 uncertain significance Bone marrow failure syndrome 3 2018-12-03 criteria provided, single submitter research The homozygous p.Trp155Arg variant in DNAJC21 was identified by our study in one individual with Bone Marrow Failure syndrome. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Trp155Arg variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).

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