ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)

gnomAD frequency: 0.00005  dbSNP: rs199770424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173350 SCV001336438 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001873614 SCV002207006 uncertain significance Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 599 of the IGHMBP2 protein (p.Val599Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs199770424, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with IGHMBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 917019). 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 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.
Revvity Omics, Revvity RCV003132250 SCV003813307 uncertain significance not provided 2019-10-15 criteria provided, single submitter clinical testing

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