ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) (rs121434281)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077894 SCV000232889 pathogenic not provided 2013-08-19 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000077894 SCV000511259 pathogenic not provided 2016-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000077894 SCV000511934 likely pathogenic not provided 2016-11-15 criteria provided, single submitter clinical testing The S245L missense variant in the ACADM gene has been reported previously in a patient who was homozygous for the S245L variant and who was detected by newborn screening for medium chain acyl-CoA dehydrogenase (MCAD) deficiency. This patient had enzyme studies that showed residual MCAD activity between classical" MCAD deficiency and heterozygous carriers of MCAD deficiency (Zschocke et al., 2001). This variant has also been described in another patient who was compound heterozygous for S245L and another variant; this individual was reported to have significantly higher residual MCAD enzyme activity (Touw et al., 2013). The S245L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded."
Counsyl RCV000003781 SCV000792652 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-07-05 criteria provided, single submitter clinical testing
OMIM RCV000003781 SCV000023946 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2001-05-01 no assertion criteria provided literature only

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