ClinVar Miner

Submissions for variant NM_182548.4(LHFPL5):c.1A>G (p.Met1Val)

dbSNP: rs1060499810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
King Laboratory, University of Washington 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, Bethlehem University RCV000454165 SCV000538128 pathogenic Autosomal recessive nonsyndromic hearing loss 67 2016-06-04 no assertion criteria provided research

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