ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.829G>A (p.Glu277Lys)

gnomAD frequency: 0.00001  dbSNP: rs1208459885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002027618 SCV002313617 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 277 of the ACADVL protein (p.Glu277Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (no rsID available, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. 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: "Benign"; Align-GVGD: "Class C15"). 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 RCV004603148 SCV005100512 uncertain significance Inborn genetic diseases 2024-04-19 criteria provided, single submitter clinical testing The c.829G>A (p.E277K) alteration is located in exon 9 (coding exon 9) of the ACADVL gene. This alteration results from a G to A substitution at nucleotide position 829, causing the glutamic acid (E) at amino acid position 277 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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