ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.219G>A (p.Thr73=) (rs755348996)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507266 SCV000603479 pathogenic not specified 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV000468087 SCV000546122 likely pathogenic Osler hemorrhagic telangiectasia syndrome 2017-03-07 criteria provided, single submitter clinical testing This sequence change affects codon 73 of the ENG mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ENG protein. It also falls at the last nucleotide of exon 2 of the ENG coding sequence. This variant is present in population databases (rs755348996, ExAC <0.01 %). This variant has been reported individuals affected with hereditary hemorrhagic telangiectasia (PMID: 17384219, 24196379). Segregation studies have not been reported for this variant. Experimental studies have reported that this silent change disrupts mRNA splicing (PMID: 17384219). In summary, this variant has been reported in multiple affected individuals and affects mRNA splicing. However, in the absence of additional genetic or functional data, it has been classified as Likely Pathogenic.

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