ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.816+6T>C

gnomAD frequency: 0.00001  dbSNP: rs759191907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001858050 SCV002311795 uncertain significance Hereditary hemorrhagic telangiectasia 2021-07-21 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the ENG gene. It does not directly change the encoded amino acid sequence of the ENG protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs759191907, ExAC 0.006%). This variant has been observed in individual(s) with renal disease, pulmonary hypertension and hemorrhagic telangiectasia (PMID: 32190976). ClinVar contains an entry for this variant (Variation ID: 453308). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Undiagnosed Diseases Network, NIH RCV000538320 SCV000622174 pathogenic Systemic lupus erythematosus; Telangiectasia, hereditary hemorrhagic, type 1 2017-03-20 no assertion criteria provided clinical testing cDNA analysis of lymphoblastoid cells with and without puromycin to inhibit nonsense mediated decay followed by Sanger sequencing was performed in a research lab along with 3 normal controls (unrelated CEPH samples). The normal controls were present as a reference for normal alternative splicing of the gene (with and without puromycin). Additional segregation analysis was not possible. ENG is already known to cause this pulmonary condition and there is nothing unusual about the splicing variant.

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