ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.1309G>A (p.Gly437Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005258762 SCV005924865 uncertain significance Inborn genetic diseases 2025-03-08 criteria provided, single submitter clinical testing The c.1309G>A (p.G437R) alteration is located in exon 13 (coding exon 12) of the PRPF31 gene. This alteration results from a G to A substitution at nucleotide position 1309, causing the glycine (G) at amino acid position 437 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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