ClinVar Miner

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

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Total submissions: 5
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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.

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