ClinVar Miner

Submissions for variant NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser)

gnomAD frequency: 0.00004  dbSNP: rs63750944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513896 SCV003007774 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 143 of the CHMP2B protein (p.Asn143Ser). This variant is present in population databases (rs63750944, gnomAD 0.02%). This missense change has been observed in individual(s) with cortical basal degeneration (PMID: 17956895). ClinVar contains an entry for this variant (Variation ID: 98002). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CHMP2B function (PMID: 22521643). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
VIB Department of Molecular Genetics, University of Antwerp RCV000084274 SCV000116410 not provided not provided no assertion provided not provided

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