ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.-98G>A

gnomAD frequency: 0.00003  dbSNP: rs923040659
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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 RCV000507801 SCV000603451 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2020-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091137 SCV005741474 uncertain significance Hereditary hemorrhagic telangiectasia 2025-01-07 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the ENG gene. It does not change the encoded amino acid sequence of the ENG protein. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ENG-related conditions. ClinVar contains an entry for this variant (Variation ID: 439645). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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