ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.736A>G (p.Ser246Gly)

dbSNP: rs1555528320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559821 SCV000654964 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-08-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192882 SCV001361314 uncertain significance not specified 2019-03-04 criteria provided, single submitter clinical testing Variant summary: ACADVL c.736A>G (p.Ser246Gly) results in a non-conservative amino acid change located in the central domain (IPR006091) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 246268 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.736A>G in individuals affected with Very Long Chain Acyl-CoA Dehydrogenase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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