ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.1A>G (p.Met1Val) (rs1291226969)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667970 SCV000792502 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV000667970 SCV001560639 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2020-08-16 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ACADS mRNA. The next in-frame methionine is located at codon 40. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with ACADS-related conditions. ClinVar contains an entry for this variant (Variation ID: 552667). 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.

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