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

gnomAD frequency: 0.00001  dbSNP: rs1291226969

Total submissions: 4

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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000667970	SCV001560639	uncertain significance	Deficiency of butyryl-CoA dehydrogenase	2023-05-08	criteria provided, single submitter	clinical testing	This variant disrupts a region of the ACADS protein in which other variant(s) (p.Arg23Trp) have been observed in individuals with ACADS-related conditions (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 552667). This variant has not been reported in the literature in individuals affected with ACADS-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects the initiator methionine of the ACADS mRNA. The next in-frame methionine is located at codon 40. 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.
Genome-Nilou Lab	RCV000667970	SCV002033233	likely pathogenic	Deficiency of butyryl-CoA dehydrogenase	2021-11-07	criteria provided, single submitter	clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV000667970	SCV005051722	pathogenic	Deficiency of butyryl-CoA dehydrogenase	2024-02-01	criteria provided, single submitter	curation