ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)

dbSNP: rs779140971
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577514 SCV001804904 likely pathogenic not provided 2024-11-19 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid(s) in a non-repeat region; This variant is associated with the following publications: (PMID: 1430199, 31904027)
Revvity Omics, Revvity RCV001780410 SCV002024514 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2021-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001780410 SCV003283118 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2022-09-20 criteria provided, single submitter clinical testing This variant, c.809_811del, results in the deletion of 1 amino acid(s) of the ETFA protein (p.Val270del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs779140971, gnomAD 0.007%). This variant has been observed in individual(s) with glutaric aciduria type 2 (PMID: 1430199). ClinVar contains an entry for this variant (Variation ID: 1209001). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Baylor Genetics RCV001780410 SCV004194723 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-03-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001780410 SCV005633278 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2024-05-31 criteria provided, single submitter clinical testing
OMIM RCV002267117 SCV000022872 pathogenic Glutaric acidemia IIa 1992-11-01 no assertion criteria provided literature only

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