ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.467G>C (p.Gly156Ala)

dbSNP: rs1221254988
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001366950 SCV001563275 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-10-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 159 of the IVD protein (p.Gly159Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with isovaleric acidemia (PMID: 19099814; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1057882). 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. 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.
Baylor Genetics RCV001366950 SCV004198009 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-09-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001366950 SCV002094397 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2021-08-18 no assertion criteria provided clinical testing

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