ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1A>G (p.Met1Val) (rs1060501418)

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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 RCV000508379 SCV000603463 pathogenic not specified 2017-04-17 criteria provided, single submitter clinical testing
Invitae RCV000469330 SCV000546125 likely pathogenic Osler hemorrhagic telangiectasia syndrome 2017-03-24 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ENG mRNA. It is expected to result in an absent or disrupted protein product since the next alternate in-frame methionine downstream of the inititator codon is located at codon 183. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in two individuals affected with hereditary haemorrhagic telangiectasia (HHT) (PMID: 15517393, 16429404). In summary, this variant disrupts the initiator codon and has been reported in affected individuals. For these reasons, this variant has been classified as Likely Pathogenic.

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