ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)

dbSNP: rs398123679
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000417380 SCV000111885 uncertain significance not provided 2013-04-10 criteria provided, single submitter clinical testing
GeneDx RCV000417380 SCV000238935 uncertain significance not provided 2023-09-20 criteria provided, single submitter clinical testing Reported in a cohort of individuals with inborn errors of metabolism (Adhikari AN et al., 2020); 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 p.(D327N) and p.(D356N); This variant is associated with the following publications: (PMID: 32778825)
Invitae RCV000557255 SCV000631881 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 359 of the IVD protein (p.Asp359Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of isovaleric acidemia (Invitae). ClinVar contains an entry for this variant (Variation ID: 94050). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000417380 SCV002541245 uncertain significance not provided 2021-11-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000557255 SCV004198044 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-01-30 criteria provided, single submitter clinical testing

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