ClinVar Miner

Submissions for variant NR_163594.1(SSPO):n.7538G>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 RCV004873674 SCV005505526 uncertain significance not specified 2024-12-10 criteria provided, single submitter clinical testing The c.7242G>C (p.E2414D) alteration is located in exon 47 (coding exon 47) of the SSPO gene. This alteration results from a G to C substitution at nucleotide position 7242, causing the glutamic acid (E) at amino acid position 2414 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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