ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.523G>A (p.Gly175Ser)

gnomAD frequency: 0.00001  dbSNP: rs962504241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732613 SCV001982885 likely pathogenic not provided 2023-09-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33931985, 34364746)
Revvity Omics, Revvity RCV003146229 SCV003831380 uncertain significance Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2019-04-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003146229 SCV005049312 likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2024-02-01 criteria provided, single submitter clinical testing

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