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	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.
Natera, Inc.	RCV001272212	SCV001453971	pathogenic	Congenital amegakaryocytic thrombocytopenia	2020-09-16	no assertion criteria provided	clinical testing

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