ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.566T>C (p.Ile189Thr)

dbSNP: rs1567563311
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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 RCV000755773 SCV000883337 likely pathogenic not provided 2017-06-20 criteria provided, single submitter clinical testing The ACADVL c.566T>C; p.Ile189Thr variant has been reported in an individual with VLCAD deficiency who also carries a pathogenic splicing variant on the opposite chromosome (Schiff 2013). Furthermore, functional analysis of the patient fibroblasts showed no detectable VLCAD activity, and no activity was detected when the variant was expressed from an in vitro prokaryotic system. The p.Ile189Thr variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database). The isoleucine at codon 189 is highly conserved, and computational algorithms (SIFT, PolyPhen2, MutationTaster) predict this variant to be damaging to the protein. Taken together, this variant is considered likely pathogenic. REFERENCES Schiff M et al. Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2013 May;109(1):21-7.

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