ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.-8T>C

gnomAD frequency: 0.00002  dbSNP: rs566691073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666964 SCV000791343 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV000666964 SCV003477062 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2022-10-05 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the IVD mRNA. The next in-frame methionine is located at codon 4. This variant is present in population databases (rs566691073, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with IVD-related conditions. ClinVar contains an entry for this variant (Variation ID: 551816). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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