ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.848A>G (p.Glu283Gly)

dbSNP: rs1314850102
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540901 SCV000631891 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-09-21 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 459931). This variant is also known as c.848A>G, (p.Glu283Gly). This missense change has been observed in individual(s) with isovaleric acidemia (PMID: 35782626; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 286 of the IVD protein (p.Glu286Gly).
Natera, Inc. RCV000540901 SCV001461294 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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