ClinVar Miner

Submissions for variant NR_163594.1(SSPO):n.15550G>C

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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 RCV004873673 SCV005505525 uncertain significance not specified 2024-12-07 criteria provided, single submitter clinical testing The c.15440G>C (p.R5147P) alteration is located in exon 103 (coding exon 103) of the SSPO gene. This alteration results from a G to C substitution at nucleotide position 15440, causing the arginine (R) at amino acid position 5147 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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