ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.925A>G (p.Lys309Glu) (rs200079527)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507199 SCV000604014 uncertain significance none provided 2019-11-11 criteria provided, single submitter clinical testing The IGHMBP2 c.925A>G; p.Lys309Glu variant (rs200079527), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 439817). This variant is found on only seven chromosomes (7/251390 alleles) in the Genome Aggregation Database. The lysine at codon 309 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Lys309Glu variant is uncertain at this time.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173340 SCV001336428 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001368198 SCV001564583 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-10-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 309 of the IGHMBP2 protein (p.Lys309Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs200079527, ExAC 0.008%). This variant has not been reported in the literature in individuals with IGHMBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 439817). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IGHMBP2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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