ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.890A>T (p.Asn297Ile)

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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 RCV004648866 SCV005153179 uncertain significance Inborn genetic diseases 2024-05-08 criteria provided, single submitter clinical testing The c.890A>T (p.N297I) alteration is located in exon 7 (coding exon 6) of the PRPF8 gene. This alteration results from a A to T substitution at nucleotide position 890, causing the asparagine (N) at amino acid position 297 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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