ClinVar Miner

Submissions for variant NM_001028.3(RPS25):c.8C>T (p.Pro3Leu)

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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 RCV004665796 SCV005164150 uncertain significance not specified 2024-03-19 criteria provided, single submitter clinical testing The c.8C>T (p.P3L) alteration is located in exon 2 (coding exon 2) of the RPS25 gene. This alteration results from a C to T substitution at nucleotide position 8, causing the proline (P) at amino acid position 3 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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