ClinVar Miner

Submissions for variant NM_016006.6(ABHD5):c.752A>C (p.His251Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003319035 SCV004023014 likely pathogenic not provided 2023-01-26 criteria provided, single submitter clinical testing Published functional studies demonstrate this variant results in a loss of acylceramide production-promoting ability (Ohno et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27858988, 30527376, 19061969, 33455044, 30099045, 15127008)

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