ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.1224dup (p.Gly409fs)

dbSNP: rs765411726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329489 SCV001520944 pathogenic Bone marrow failure syndrome 3 2019-01-17 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003770817 SCV004670771 pathogenic not provided 2023-03-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1028445). This variant has not been reported in the literature in individuals affected with DNAJC21-related conditions. This variant is present in population databases (rs765411726, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Gly409Argfs*5) 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).

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