ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.467C>G (p.Ser156Ter)

dbSNP: rs1573715350
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813897 SCV000954279 uncertain significance Familial acute necrotizing encephalopathy 2018-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser156*) in the RANBP2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RANBP2-related disease. This variant disrupts the p.Thr585 amino acid residue in RANBP2. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 26923722, 27591117, 21945312, 20473521, 26110162, 19811512, 19118815, 25128471, 25522933, 21205700, 28336122), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RANBP2 cause disease. 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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