ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser)

dbSNP: rs1554885535
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521552 SCV000619804 likely pathogenic not provided 2022-10-13 criteria provided, single submitter clinical testing Not observed 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: 28202214, 29882869, 31944285)
Fulgent Genetics, Fulgent Genetics RCV000764883 SCV000896042 uncertain significance Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000764883 SCV001520541 uncertain significance Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2020-03-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV000521552 SCV002313071 uncertain significance not provided 2021-10-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, a(n) neutral and non-polar amino acid, with serine, a(n) neutral and polar amino acid, at codon 279 of the ECHS1 protein (p.Phe279Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ECHS1-related conditions (PMID: 28202214). ClinVar contains an entry for this variant (Variation ID: 451145). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ECHS1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000764883 SCV003831381 uncertain significance Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2019-12-24 criteria provided, single submitter clinical testing

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