ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.41T>C (p.Leu14Pro) (rs1554813788)

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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 RCV000506963 SCV000603453 pathogenic not specified 2016-09-14 criteria provided, single submitter clinical testing
Invitae RCV001377784 SCV001575207 likely pathogenic Hereditary hemorrhagic telangiectasia 2020-01-11 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 14 of the ENG protein (p.Leu14Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. 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 (PMID: 21158752, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 439647). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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