ClinVar Miner

Submissions for variant NR_163594.1(SSPO):n.3883C>T

dbSNP: rs770641836
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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 RCV004460887 SCV004958011 uncertain significance not specified 2024-03-07 criteria provided, single submitter clinical testing The c.3872C>T (p.T1291I) alteration is located in exon 25 (coding exon 25) of the SSPO gene. This alteration results from a C to T substitution at nucleotide position 3872, causing the threonine (T) at amino acid position 1291 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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