ClinVar Miner

Submissions for variant NR_163594.1(SSPO):n.2425C>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 RCV004873658 SCV005505504 uncertain significance not specified 2024-09-11 criteria provided, single submitter clinical testing The c.2416C>T (p.R806C) alteration is located in exon 16 (coding exon 16) of the SSPO gene. This alteration results from a C to T substitution at nucleotide position 2416, causing the arginine (R) at amino acid position 806 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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