ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu) (rs141594765)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514865 SCV000610077 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing
GeneDx RCV000235803 SCV000293047 uncertain significance not specified 2015-08-28 criteria provided, single submitter clinical testing The P787L variant has been reported previously in the heterozygous state in an individual with CMT2; however, no conclusions regarding the pathogenicity of this variant can be made from this report (Hoyer at al., 2014). The P787L variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The 1000 Genomes Project reports P787L was observed in 2/1006 (0.2%) alleles from individuals of European background. The P787L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts the P787L variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000348006 SCV000373795 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000642662 SCV000764349 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2017-12-27 criteria provided, single submitter clinical testing

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