ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.3420G>A (p.Ala1140=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479937 SCV004222739 likely benign not specified 2023-11-02 criteria provided, single submitter clinical testing Variant summary: HIVEP2 c.3420G>A alters a non-conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.6e-05 in 247294 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3420G>A in individuals affected with Intellectual Disability and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV003553995 SCV004304123 benign not provided 2023-06-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540685 SCV004794935 likely benign HIVEP2-related disorder 2020-11-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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