ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.397_398del (p.Cys133fs)

gnomAD frequency: 0.00001  dbSNP: rs398123682
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790807 SCV000230189 pathogenic not provided 2012-08-22 criteria provided, single submitter clinical testing
Counsyl RCV000178176 SCV000486580 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2016-06-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV000178176 SCV004198025 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-06-26 criteria provided, single submitter clinical testing
Invitae RCV000178176 SCV004468380 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-05-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 94054). This variant has not been reported in the literature in individuals affected with IVD-related conditions. This variant is present in population databases (rs398123682, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Cys136Hisfs*10) in the IVD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IVD are known to be pathogenic (PMID: 16602101).

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