ClinVar Miner

Submissions for variant NM_014687.4(RUBCN):c.397C>T (p.His133Tyr)

gnomAD frequency: 0.00048  dbSNP: rs201876836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004039979 SCV003690659 uncertain significance not specified 2023-12-12 criteria provided, single submitter clinical testing The c.217C>T (p.H73Y) alteration is located in exon 4 (coding exon 3) of the RUBCN gene. This alteration results from a C to T substitution at nucleotide position 217, causing the histidine (H) at amino acid position 73 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV003298955 SCV004009677 uncertain significance Autosomal recessive spinocerebellar ataxia 15 criteria provided, single submitter research
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723309 SCV001958260 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723309 SCV001974804 uncertain significance not provided no assertion criteria provided clinical testing

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