ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.674del (p.Pro225fs)

dbSNP: rs1830596596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225902 SCV001398196 pathogenic Hereditary hemorrhagic telangiectasia 2019-10-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500, 20656886, 22385575). This variant has not been reported in the literature in individuals with ENG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro225Argfs*10) in the ENG gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002375222 SCV002667860 pathogenic Cardiovascular phenotype 2019-09-05 criteria provided, single submitter clinical testing The c.674delC pathogenic mutation, located in coding exon 5 of the ENG gene, results from a deletion of one nucleotide at nucleotide position 674, causing a translational frameshift with a predicted alternate stop codon (p.P225Rfs*10). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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