ClinVar Miner

Submissions for variant NM_004878.5(PTGES):c.386C>G (p.Thr129Ser)

dbSNP: rs200459904
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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 RCV004253663 SCV003876723 uncertain significance not specified 2023-02-23 criteria provided, single submitter clinical testing The c.386C>G (p.T129S) alteration is located in exon 3 (coding exon 3) of the PTGES gene. This alteration results from a C to G substitution at nucleotide position 386, causing the threonine (T) at amino acid position 129 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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