Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000610398 | SCV000712074 | likely pathogenic | Rare isolated myopia | 2016-05-16 | criteria provided, single submitter | clinical testing | The p.Gln61X variant in LRPAP1 has not been previously reported in the literatur e and data from large population studies is insufficient to assess the frequency of this variant. This nonsense variant leads to a premature termination codon a t position 61, which is predicted to lead to a truncated or absent protein. Bial lelic loss of function of the LRPAP1 gene has been reported in 8 families with n on-syndromic myopia (Aldahmesh 2013, Jiang 2015, Khan 2016). In summary, althoug h additional studies are required to fully establish its clinical significance, the p.Gln61X variant is likely pathogenic for myopia in an autosomal recessive m anner based on its predicted functional impact. |