ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe)

dbSNP: rs1774518388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045770 SCV001209641 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2022-06-22 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 843206). This missense change has been observed in individuals with multiple acyl-CoA dehydrogenase deficiency (PMID: 31268564; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 373 of the ETFDH protein (p.Ser373Phe).
Natera, Inc. RCV001273691 SCV001457030 uncertain significance Glutaric acidemia type 2C 2020-03-11 no assertion criteria provided clinical testing

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