ClinVar Miner

Submissions for variant NR_163594.1(SSPO):n.8677G>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 RCV004873646 SCV005505485 uncertain significance not specified 2024-11-27 criteria provided, single submitter clinical testing The c.8381G>C (p.G2794A) alteration is located in exon 55 (coding exon 55) of the SSPO gene. This alteration results from a G to C substitution at nucleotide position 8381, causing the glycine (G) at amino acid position 2794 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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