ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.505C>T (p.Leu169Phe)

dbSNP: rs2131890408
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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 RCV001936308 SCV002201833 uncertain significance Hereditary hemorrhagic telangiectasia 2021-08-09 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ENG protein function. This variant has not been reported in the literature in individuals affected with ENG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 169 of the ENG protein (p.Leu169Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine.
Fulgent Genetics, Fulgent Genetics RCV002484613 SCV002776424 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2021-11-08 criteria provided, single submitter clinical testing

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