ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.638T>C (p.Leu213Pro)

dbSNP: rs1583983649
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811720 SCV000952001 uncertain significance Cerebral cavernous malformation 2 2020-01-11 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change results in significantly reduced solubility in vitro, affecting the stability of the protein (PMID: 25525273). This variant has been observed in an individual with clinical features of cerebral cavernous malformation (PMID: 25525273). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 213 of the CCM2 protein (p.Leu213Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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.
Swedish Neurofibromatosis Center, Swedish Medical Center RCV000991327 SCV001132047 likely pathogenic Cerebral cavernous malformation 2019-12-18 criteria provided, single submitter clinical testing 1. This sequence change replaces leucine with proline at codon 213 of the CCM2 protein (p.Leu213Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 2. This variant is not present in population databases (ExAC no frequency). 3. This variant has been observed in an individual with clinical features of cerebral cavernous malformation (PMID: 25525273). 4. Experimental studies have shown that this missense change results in significantly reduced solubility in vitro, affecting the stability of the protein (PMID: 25525273).

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