ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter)

gnomAD frequency: 0.00003  dbSNP: rs771063992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000735291 SCV000854444 pathogenic Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue criteria provided, single submitter clinical testing
Center for Personalized Medicine, Children's Hospital Los Angeles RCV003156112 SCV003845290 pathogenic See cases 2022-12-21 criteria provided, single submitter clinical testing
Invitae RCV003768255 SCV004630836 pathogenic not provided 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg182*) 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 present in population databases (rs771063992, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with DNAJC21-related conditions (PMID: 30755392). ClinVar contains an entry for this variant (Variation ID: 598950). For these reasons, this variant has been classified as Pathogenic.

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