ClinVar Miner

Submissions for variant NM_018061.4(PRPF38B):c.1463G>A (p.Arg488Gln)

gnomAD frequency: 0.00001  dbSNP: rs386352353
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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 RCV004019522 SCV003642998 uncertain significance not specified 2022-10-26 criteria provided, single submitter clinical testing The c.1463G>A (p.R488Q) alteration is located in exon 6 (coding exon 6) of the PRPF38B gene. This alteration results from a G to A substitution at nucleotide position 1463, causing the arginine (R) at amino acid position 488 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Richard Lifton Laboratory, Yale University School of Medicine RCV000122555 SCV000155063 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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