ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.724T>A (p.Ser242Thr)

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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 RCV005258761 SCV005924864 uncertain significance Inborn genetic diseases 2025-02-22 criteria provided, single submitter clinical testing The c.724T>A (p.S242T) alteration is located in exon 8 (coding exon 7) of the PRPF31 gene. This alteration results from a T to A substitution at nucleotide position 724, causing the serine (S) at amino acid position 242 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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