ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1524G>C (p.Gln508His)

gnomAD frequency: 0.00001  dbSNP: rs749332311
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001348036 SCV001542322 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-01-03 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces glutamine with histidine at codon 508 of the ACADVL protein (p.Gln508His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs749332311, ExAC 0.003%) but has not been reported in the literature in individuals with a ACADVL-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies.

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