ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.323T>A (p.Ile108Asn)

dbSNP: rs1414148078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696645 SCV000825213 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2022-06-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 108 of the ETFA protein (p.Ile108Asn). This variant is present in population databases (no rsID available, 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: 574654). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. RCV001825367 SCV002089810 uncertain significance Glutaric acidemia type 2A 2020-10-14 no assertion criteria provided clinical testing

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