ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.865G>A (p.Gly289Arg)

gnomAD frequency: 0.00002  dbSNP: rs568885234
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071786 SCV001237107 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 292 of the IVD protein (p.Gly292Arg). This variant is present in population databases (rs568885234, gnomAD 0.004%). This missense change has been observed in individual(s) with isovaleric acidemia (PMID: 31707166, 35095998; 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 also known as c.865G > A p.G289R. ClinVar contains an entry for this variant (Variation ID: 864566). 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 tolerated. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001071786 SCV004198010 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001071786 SCV001461295 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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