ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.62G>C (p.Cys21Ser)

dbSNP: rs1436440154
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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 RCV001889199 SCV002159782 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing 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 not expected to disrupt ECHS1 protein function. ClinVar contains an entry for this variant (Variation ID: 1389349). This variant has not been reported in the literature in individuals affected with ECHS1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 21 of the ECHS1 protein (p.Cys21Ser). 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 RCV003492694 SCV004234672 uncertain significance Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2023-03-27 criteria provided, single submitter clinical testing

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