ClinVar Miner

Submissions for variant NM_170744.5(UNC5B):c.701G>A (p.Arg234His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004146650 SCV003631275 uncertain significance not specified 2022-06-03 criteria provided, single submitter clinical testing The c.701G>A (p.R234H) alteration is located in exon 5 (coding exon 5) of the UNC5B gene. This alteration results from a G to A substitution at nucleotide position 701, causing the arginine (R) at amino acid position 234 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003126278 SCV003804162 likely benign Autism spectrum disorder 2022-04-13 criteria provided, single submitter clinical testing

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