ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.320_328del (p.Leu107_Leu109del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052121 SCV001216315 uncertain significance Hereditary hemorrhagic telangiectasia 2020-10-21 criteria provided, single submitter clinical testing This variant, c.320_328del, results in the deletion of 3 amino acid(s) of the ENG protein (p.Leu107_Leu109del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of hereditary hemorrhagic telangiectasia (Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 848379). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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