ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1255A>T (p.Thr419Ser)

gnomAD frequency: 0.00001  dbSNP: rs574791445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001363757 SCV001559882 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 419 of the ETFDH protein (p.Thr419Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ETFDH-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004980377 SCV005587721 uncertain significance Inborn genetic diseases 2024-08-27 criteria provided, single submitter clinical testing The c.1255A>T (p.T419S) alteration is located in exon 10 (coding exon 10) of the ETFDH gene. This alteration results from a A to T substitution at nucleotide position 1255, causing the threonine (T) at amino acid position 419 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001831244 SCV002084865 uncertain significance Glutaric acidemia type 2C 2021-03-04 no assertion criteria provided clinical testing

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