ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.149G>C (p.Arg50Pro) (rs2229311)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169289 SCV000220605 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2014-08-19 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000169289 SCV000893369 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000169289 SCV001163380 pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090731 SCV001246420 pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV001090731 SCV001251800 likely pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing
Invitae RCV000169289 SCV001578737 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2020-09-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 53 of the IVD protein (p.Arg53Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs2229311, ExAC 0.02%). This variant has been observed in individual(s) with isovaleric acidemia (PMID: 27904153, 26018748, 9665741). This variant is also known as p.Arg21Pro in the literature. ClinVar contains an entry for this variant (Variation ID: 188922). This variant has been reported to affect IVD protein function (PMID: 9665741). This variant disrupts the p.Arg53 amino acid residue in IVD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 110677295). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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