ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.1217C>T (p.Thr406Met)

gnomAD frequency: 0.00119  dbSNP: rs150734280
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001001634 SCV001006486 likely benign Cerebral cavernous malformation 2 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001634 SCV001159129 likely benign Cerebral cavernous malformation 2 2019-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352529 SCV002660390 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The p.T406M variant (also known as c.1217C>T), located in coding exon 10 of the CCM2 gene, results from a C to T substitution at nucleotide position 1217. The threonine at codon 406 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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