ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.415C>T (p.Leu139Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340956 SCV004047848 uncertain significance Elliptocytosis 1 criteria provided, single submitter clinical testing The missense variant in c.415C>T(p.Leu139Phe) in EPB41 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu139Phe variant is novel (not in any individuals) in 1000 Genomes and has allele frequency of 0.004% in gnomAD database. This variant has not been reported to the ClinVar database. The amino acid change p.Leu139Phe in EPB41 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Leu at position 139 is changed to a Phe changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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