ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.268G>A (p.Gly90Arg)

gnomAD frequency: 0.00001  dbSNP: rs1085307550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489045 SCV000576703 likely pathogenic not provided 2024-02-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26099313, 26000322, 35586607)
Baylor Genetics RCV001336115 SCV001529421 uncertain significance Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2018-09-19 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 RCV000489045 SCV002218117 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 90 of the ECHS1 protein (p.Gly90Arg). 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 missense change has been observed in individual(s) with ECHS1-related conditions (PMID: 26000322). ClinVar contains an entry for this variant (Variation ID: 426299). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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