ClinVar Miner

Submissions for variant NR_163594.1(SSPO):n.8698C>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 RCV004857549 SCV005505479 uncertain significance not specified 2024-07-30 criteria provided, single submitter clinical testing The c.8402C>T (p.S2801F) alteration is located in exon 55 (coding exon 55) of the SSPO gene. This alteration results from a C to T substitution at nucleotide position 8402, causing the serine (S) at amino acid position 2801 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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