ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)

gnomAD frequency: 0.00001  dbSNP: rs776608445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809438 SCV000949589 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2023-11-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 340 of the IVD protein (p.Arg340Trp). This variant is present in population databases (rs776608445, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of IVD-related conditions (PMID: 32778825). ClinVar contains an entry for this variant (Variation ID: 653635). 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 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.
Baylor Genetics RCV000809438 SCV001520177 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2019-06-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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