Submissions for variant NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) (rs142062146)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000727033	SCV000642294	likely benign	not provided	2019-01-17	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000727033	SCV000705058	uncertain significance	not provided	2017-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000596269	SCV000728569	likely benign	not specified	2017-12-29	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000727033	SCV001148360	uncertain significance	not provided	2019-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000596269	SCV001159710	uncertain significance	not specified	2018-07-12	criteria provided, single submitter	clinical testing	The IGHMBP2 c.1064C>T; p.Ala355Val variant (rs142062146) is reported in the literature in the homozygous state in an individual who was affected with schizophrenia or schizoaffective disorder; however, the contribution of this variant to the phenotype is not known (Need 2012). This variant is reported in ClinVar (Variation ID: 466572) and is found in the African population with an overall allele frequency of 0.73% (175/24,020 alleles) in the Genome Aggregation Database. The alanine at codon 355 is highly conserved (Alamut v.2.11) and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, the clinical significance of this variant is uncertain at this time.