ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.851G>A (p.Arg284Gln)

gnomAD frequency: 0.00003  dbSNP: rs373534546
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671277 SCV000796236 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2017-12-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000671277 SCV001163386 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Invitae RCV000671277 SCV002297768 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 287 of the IVD protein (p.Arg287Gln). This variant is present in population databases (rs373534546, gnomAD 0.008%). This missense change has been observed in individual(s) with a positive newborn screening result for IVD-related disease (PMID: 15486829). ClinVar contains an entry for this variant (Variation ID: 555453). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002531276 SCV003724010 uncertain significance Inborn genetic diseases 2021-05-20 criteria provided, single submitter clinical testing The c.860G>A (p.R287Q) alteration is located in exon 8 (coding exon 8) of the IVD gene. This alteration results from a G to A substitution at nucleotide position 860, causing the arginine (R) at amino acid position 287 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003163065 SCV003914944 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as R284Q and R255Q; This variant is associated with the following publications: (PMID: 25087612, 32778825, 15486829, 21228398, 24059531)

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