ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1601C>T (p.Ala534Val)

gnomAD frequency: 0.00003  dbSNP: rs763321558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813584 SCV000953950 uncertain significance Familial acute necrotizing encephalopathy 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 534 of the RANBP2 protein (p.Ala534Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. 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: "Benign"; Align-GVGD: "Class C55"). 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.
CeGaT Center for Human Genetics Tuebingen RCV003437434 SCV004148966 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing

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