ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.807A>C (p.Gln269His)

dbSNP: rs1265381182
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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 RCV000685445 SCV000812927 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2020-02-29 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 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"). This variant has been reported in individuals affected with clinical features of glutaric aciduria type II (PMID: 24516753, Invitae). ClinVar contains an entry for this variant (Variation ID: 565800). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 269 of the ETFDH protein (p.Gln269His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798855 SCV005420720 likely pathogenic Glutaric acidemia IIc 2024-10-04 criteria provided, single submitter research PM3,PM2,PP3,PM5
Natera, Inc. RCV001829892 SCV002084855 uncertain significance Glutaric acidemia type 2C 2021-06-23 no assertion criteria provided clinical testing

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