ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)

dbSNP: rs1384386872
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092618 SCV001249200 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784643 SCV002022212 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2021-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001784643 SCV003442985 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2022-01-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 872253). This variant is also known as c.12_22dup. This premature translational stop signal has been observed in individual(s) with multiple acyl-CoA dehydrogenase deficiency (PMID: 16510302). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gln9Argfs*20) in the ETFA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ETFA are known to be pathogenic (PMID: 16510302, 23785301).
Baylor Genetics RCV001784643 SCV004194740 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-02-16 criteria provided, single submitter clinical testing

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