ClinVar Miner

Submissions for variant NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp) (rs148346337)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585533 SCV000693108 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331350 SCV001523375 uncertain significance Aminoacylase 1 deficiency 2019-08-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000585533 SCV001772704 likely pathogenic not provided 2021-05-18 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on protein expression and enzymatic activity (Sommer et al., 2011); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29653693, 21414403)

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