ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.1132T>C (p.Cys378Arg)

gnomAD frequency: 0.00001  dbSNP: rs398123680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174064 SCV000225299 likely pathogenic not provided 2016-06-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330425 SCV004039418 uncertain significance not specified 2023-08-25 criteria provided, single submitter clinical testing Variant summary: IVD c.1132T>C (p.Cys378Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251390 control chromosomes (gnoomAD) . c.1132T>C has been reported in the literature in a homozygous individual affected with Isovaleryl-CoA Dehydrogenase Deficiency (example: Nizon_2013). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 24059531). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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