ClinVar Miner

Submissions for variant NM_134261.3(RORA):c.140G>C (p.Arg47Thr)

gnomAD frequency: 0.00001  dbSNP: rs1256061363
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332868 SCV001525307 uncertain significance Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 2019-12-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546602 SCV003634789 uncertain significance Inborn genetic diseases 2022-07-14 criteria provided, single submitter clinical testing The c.140G>C (p.R47T) alteration is located in exon 1 (coding exon 1) of the RORA gene. This alteration results from a G to C substitution at nucleotide position 140, causing the arginine (R) at amino acid position 47 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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