ClinVar Miner

Submissions for variant NM_207111.4(RNF216):c.2044A>C (p.Asn682His)

dbSNP: rs2128629393
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV002267208 SCV002549142 uncertain significance Cerebellar ataxia-hypogonadism syndrome 2022-06-07 no assertion criteria provided clinical testing The variant was detected in a patient with clinical suspicion of SCA, family history was negative for a similar condition. The variant is not present in population databases and it has not yet been reported in the literature. The affected amino acid is highly conserved in various species and it affects the IBR domain of the protein where several pathogenic variants have been reported. The patient carries a second variant of unkonwn significance in RNF216, however, no segregation analyses have been performed yet. We therefore consider it a variant of unknown significance.

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