ClinVar Miner

Submissions for variant NR_163594.1(SSPO):n.5280C>T

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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 RCV004873661 SCV005505507 uncertain significance not specified 2024-07-05 criteria provided, single submitter clinical testing The c.4984C>T (p.P1662S) alteration is located in exon 31 (coding exon 31) of the SSPO gene. This alteration results from a C to T substitution at nucleotide position 4984, causing the proline (P) at amino acid position 1662 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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