ClinVar Miner

Submissions for variant NM_002894.3(RBBP8):c.1771C>T (p.Arg591Cys)

gnomAD frequency: 0.00004  dbSNP: rs370311825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224760 SCV000280614 uncertain significance not provided 2015-12-23 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Ambry Genetics RCV004020715 SCV004938100 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.1771C>T (p.R591C) alteration is located in exon 11 (coding exon 10) of the RBBP8 gene. This alteration results from a C to T substitution at nucleotide position 1771, causing the arginine (R) at amino acid position 591 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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