ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.1389+8dup

gnomAD frequency: 0.00002  dbSNP: rs1484394551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521011 SCV000619526 uncertain significance not specified 2017-08-14 criteria provided, single submitter clinical testing The c.1389+8dupA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1389+8dupA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.1389+8dupA does not lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002527617 SCV003505772 likely benign Mitochondrial trifunctional protein deficiency 2023-06-01 criteria provided, single submitter clinical testing

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