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

Total submissions: 3

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).