ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1273-5C>T

gnomAD frequency: 0.00001  dbSNP: rs779103881
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506008 SCV000603452 benign not specified 2016-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000558143 SCV000629551 likely benign Hereditary hemorrhagic telangiectasia 2023-03-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001168715 SCV001331325 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2018-03-30 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago RCV000506008 SCV002065740 uncertain significance not specified 2021-11-22 criteria provided, single submitter clinical testing DNA sequence analysis of the ENG gene demonstrated a sequence change in intron 9, c.1273-5C>T. This sequence change has been described in the gnomAD database in one individual which corresponds to a population frequency of 0.00042% (dbSNP rs779103881). This sequence change is not predicted to have a deleterious effect on splicing based on in-silico splice prediction programs. This change does not appear to have been previously described in individuals with ENG-related disorders. It is possible that this sequence change represents a benign sequence change in the ENG gene that has not been identified to date. The functional significance of this sequence change is not known at present and its contribution to this individual's disease phenotype cannot definitively be determined.

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