ClinVar Miner

Submissions for variant NM_001609.3(ACADSB):c.303+3A>G (rs1345480688)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522412 SCV000616631 pathogenic not provided 2016-09-09 criteria provided, single submitter clinical testing The c.303+3A>G variant in the ACADSB gene has been reported previously in association with autosomal recessive short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) when present in the homozygous state or when in trans with another disease-causing variant (Kanavin et al., 2007; Madsen et al., 2006). This variant is predicted to destroy the natural splice donor site in intron 3. Functional studies demonstrate that the c.303+3A>G variant causes complete exon skipping of exon 3 (Madsen et al., 2006). We interpret c.303+3A>G as a disease-causing variant
OMIM RCV000009779 SCV000030000 pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase 2006-02-01 no assertion criteria provided literature only

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