ClinVar Miner

Submissions for variant NR_163594.1(SSPO):n.5956G>A

dbSNP: rs2486262920
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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 RCV004460895 SCV004958019 uncertain significance not specified 2024-02-05 criteria provided, single submitter clinical testing The c.5660G>A (p.C1887Y) alteration is located in exon 35 (coding exon 35) of the SSPO gene. This alteration results from a G to A substitution at nucleotide position 5660, causing the cysteine (C) at amino acid position 1887 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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