ClinVar Miner

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

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Total submissions: 2
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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 2020-08-06 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). ClinVar contains an entry for this variant (Variation ID: 644406). 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.
Natera, Inc. RCV001272212 SCV001453971 pathogenic Congenital amegakaryocytic thrombocytopenia 2020-09-16 no assertion criteria provided clinical testing

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