ClinVar Miner

Submissions for variant NR_163594.1(SSPO):n.3880C>A

dbSNP: rs1446065481
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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 RCV004103140 SCV003570570 uncertain significance not specified 2021-08-02 criteria provided, single submitter clinical testing The c.3869C>A (p.P1290H) alteration is located in exon 25 (coding exon 25) of the SSPO gene. This alteration results from a C to A substitution at nucleotide position 3869, causing the proline (P) at amino acid position 1290 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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