ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.509G>A (p.Gly170Glu)

gnomAD frequency: 0.00001  dbSNP: rs780998008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795167 SCV000934611 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2022-02-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 170 of the ETFA protein (p.Gly170Glu). This variant is present in population databases (rs780998008, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ETFA-related conditions. ClinVar contains an entry for this variant (Variation ID: 641837). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV000795167 SCV001454936 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2020-04-19 no assertion criteria provided clinical testing

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