ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.636A>T (p.Lys212Asn)

gnomAD frequency: 0.00002  dbSNP: rs758859840
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237581 SCV001410347 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 212 of the ETFDH protein (p.Lys212Asn). This variant is present in population databases (rs758859840, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with ETFDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 963543). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ETFDH protein function with a negative predictive value of 80%. 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 RCV004978180 SCV005587720 uncertain significance Inborn genetic diseases 2024-12-09 criteria provided, single submitter clinical testing The c.636A>T (p.K212N) alteration is located in exon 6 (coding exon 6) of the ETFDH gene. This alteration results from a A to T substitution at nucleotide position 636, causing the lysine (K) at amino acid position 212 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV005054349 SCV005687933 uncertain significance not provided 2024-07-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Natera, Inc. RCV001237581 SCV001466111 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2020-10-15 no assertion criteria provided clinical testing

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