ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1652C>T (p.Pro551Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002734523 SCV003751065 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.1652C>T (p.P551L) alteration is located in exon 11 (coding exon 11) of the MPL gene. This alteration results from a C to T substitution at nucleotide position 1652, causing the proline (P) at amino acid position 551 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005227866 SCV005867085 uncertain significance Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 551 of the MPL protein (p.Pro551Leu). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MPL-related conditions. ClinVar contains an entry for this variant (Variation ID: 2400412). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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