ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) (rs780802298)

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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 RCV000856963 SCV001336669 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001320701 SCV001511497 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-03-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 199 of the IGHMBP2 protein (p.Ala199Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs780802298, ExAC 0.002%). This variant has not been reported in the literature in individuals with IGHMBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 694854). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
Genesis Genome Database RCV000856963 SCV000999528 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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