ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.640_643del (p.Gly214fs) (rs864622666)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205417 SCV000261692 pathogenic Hereditary hemorrhagic telangiectasia type 1 2015-10-28 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 5 of the ENG mRNA (c.640_643delGGCC), causing a frameshift at codon 214. This creates a premature translational stop signal (p.Gly214Thrfs*7) and is expected to result in an absent or disrupted protein product. Truncating variants in ENG are known to be pathogenic (PMID: 21158752, 12673790). This particular deletion has been reported in individuals affected with hereditary hemorrhagic telangiectasia (PMID: 15266205, 16752392). This variant is also known as c.635_638delGGCC in the literature. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001041455 SCV001205076 pathogenic Hereditary hemorrhagic telangiectasia 2019-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly214Thrfs*7) in the ENG gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in individuals affected with hereditary hemorrhagic telangiectasia (PMID: 15266205, 16752392). This variant is also known as c.635_638delGGCC or c.640_644delGGCC in the literature. ClinVar contains an entry for this variant (Variation ID: 220826). Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500, 20656886, 22385575). For these reasons, this variant has been classified as Pathogenic.

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