ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1753T>C (p.Ser585Pro)

dbSNP: rs1647101031
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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 RCV002992132 SCV003714120 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.1753T>C (p.S585P) alteration is located in exon 12 (coding exon 12) of the MPL gene. This alteration results from a T to C substitution at nucleotide position 1753, causing the serine (S) at amino acid position 585 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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