ClinVar Miner

Submissions for variant NM_014687.4(RUBCN):c.1464C>A (p.Asp488Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV003311618 SCV004009678 uncertain significance Autosomal recessive spinocerebellar ataxia 15 criteria provided, single submitter research
Ambry Genetics RCV004333254 SCV005014931 uncertain significance not specified 2024-01-24 criteria provided, single submitter clinical testing The c.1329C>A (p.D443E) alteration is located in exon 10 (coding exon 9) of the RUBCN gene. This alteration results from a C to A substitution at nucleotide position 1329, causing the aspartic acid (D) at amino acid position 443 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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