ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.2T>C (p.Met1Thr) (rs727503918)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000153198 SCV000238820 likely pathogenic not provided 2019-08-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153198 SCV000331585 likely pathogenic not provided 2014-01-17 criteria provided, single submitter clinical testing
Invitae RCV000324694 SCV000815047 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2018-05-09 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ETFA mRNA. The next in-frame methionine is located at codon 261. This variant is present in population databases (rs727503918, ExAC 0.02%). This variant has not been reported in the literature in individuals with ETFA-related disease. ClinVar contains an entry for this variant (Variation ID: 167039). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid(s) is currently unknown. The observation of one or more missense substitutions between codon 1 and codon 261 (p.Gly116Arg and p.Arg122Lys) in affected individuals suggests that this region may be a clinically significant (PMID: 1430199, 9334218, 16510302). 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.

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