Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
King Laboratory, |
RCV000454165 | SCV002059913 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 67 | 2020-08-01 | criteria provided, single submitter | research | LHFPL5 c.1A>G, p.M1V alters the first codon of LHFPL5, leading to loss of the translation start. The entire N-terminal cytoplasmic domain of the protein lises between codon 1 and the next Met at codon 28. The variant is homozygous in 5 Palestinian children with pre-lingual severe to profound hearing loss (Abu Rayyan 2020). It is absent from 1300 Palestinian controls and absent from gnomAD v2.1.1. |
Hereditary Research Laboratory, |
RCV000454165 | SCV000538128 | pathogenic | Autosomal recessive nonsyndromic hearing loss 67 | 2016-06-04 | no assertion criteria provided | research |