ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.1334C>T (p.Ser445Phe)

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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 RCV004954727 SCV005482671 uncertain significance Inborn genetic diseases 2024-10-08 criteria provided, single submitter clinical testing The c.1334C>T (p.S445F) alteration is located in exon 13 (coding exon 12) of the PRPF31 gene. This alteration results from a C to T substitution at nucleotide position 1334, causing the serine (S) at amino acid position 445 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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