ClinVar Miner

Submissions for variant NM_005373.2(MPL):c.304C>T (p.Arg102Cys) (rs763568293)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798314 SCV000937922 pathogenic Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia 2019-12-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 102 of the MPL protein (p.Arg102Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs763568293, ExAC 0.001%). This variant has been observed in individuals affected with congenital amegakaryocytic thrombocytopenia (PMID: 16470591, 21659346). This variant has been reported to affect MPL protein function (PMID: 24438083). This variant disrupts the p.Arg102 amino acid residue in MPL. Other variant(s) that disrupt this residue have been observed in individuals with MPL-related conditions (PMID: 10971406, 11972523, 16470591), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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