ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.381del (p.Ala128fs) (rs769048174)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546725 SCV000631877 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2019-12-24 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 4 of the IVD mRNA (c.390delT), causing a frameshift at codon 131. This creates a premature translational stop signal (p.Ala131Profs*26) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss of function variants in IVD are known to be pathogenic (PMID: 23587913, 10677295). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000546725 SCV001132237 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2014-10-20 no assertion criteria provided clinical testing

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