ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1198A>G (p.Ile400Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004752463 SCV005363268 uncertain significance EVC-related disorder 2024-07-01 no assertion criteria provided clinical testing The EVC c.1198A>G variant is predicted to result in the amino acid substitution p.Ile400Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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