ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)

dbSNP: rs398123080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173951 SCV000225142 likely pathogenic not provided 2012-10-05 criteria provided, single submitter clinical testing
Invitae RCV002513812 SCV003271951 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-12-26 criteria provided, single submitter clinical testing 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 92271). This missense change has been observed in individual(s) with a positive newborn screening result for ACADVL-related disease (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 369 of the ACADVL protein (p.Phe369Ser).

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