Submissions for variant NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)

gnomAD frequency: 0.00256  dbSNP: rs191830054

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194140	SCV000246878	uncertain significance	not specified	2014-08-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000434443	SCV000511538	likely benign	not provided	2016-09-27	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000662088	SCV000784427	uncertain significance	Intellectual disability, autosomal recessive 3	2018-03-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311291	SCV000846957	uncertain significance	Inborn genetic diseases	2020-05-27	criteria provided, single submitter	clinical testing	The p.I412V variant (also known as c.1234A>G), located in coding exon 12 of the CC2D1A gene, results from an A to G substitution at nucleotide position 1234. The isoleucine at codon 412 is replaced by valine, an amino acid with highly similar properties. This variant has co-occurred with variants in other intellectual disability (ID)-related genes in individuals from an ID cohort (Grozeva D et al. Hum. Mutat., 2015 Dec;36:1197-204). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae	RCV000434443	SCV001034961	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000662088	SCV001524407	uncertain significance	Intellectual disability, autosomal recessive 3	2019-01-07	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen	RCV000434443	SCV003918085	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	CC2D1A: BP4
PreventionGenetics, part of Exact Sciences	RCV003917738	SCV004731506	likely benign	CC2D1A-related condition	2022-03-18	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).