ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs)

dbSNP: rs2131875838
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003593861 SCV004296097 pathogenic Hereditary hemorrhagic telangiectasia 2023-08-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 16670). This premature translational stop signal has been observed in individual(s) with hereditary haemorrhagic telangiectasia (PMID: 7894484). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser518Thrfs*9) in the ENG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500).
OMIM RCV000018150 SCV000038429 pathogenic Telangiectasia, hereditary hemorrhagic, type 1 2017-11-22 no assertion criteria provided literature only

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