ClinVar Miner

Submissions for variant NM_145698.5(ACBD5):c.88C>T (p.Gln30Ter)

gnomAD frequency: 0.00004  dbSNP: rs201279624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383492 SCV001582643 pathogenic not provided 2023-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln30*) in the ACBD5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACBD5 are known to be pathogenic (PMID: 23105016, 27799409). This variant is present in population databases (rs201279624, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ACBD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1071116). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001383492 SCV002028489 uncertain significance not provided 2022-05-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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