ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.351C>G (p.Asn117Lys)

dbSNP: rs779745734
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227347 SCV002506211 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-01-14 criteria provided, single submitter clinical testing The ACADVL c.351C>G; p.Asn117Lys variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The asparagine at codon 117 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.648). However, given the lack of clinical and functional data, the significance of the p.Asn117Lys variant is uncertain at this time.

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