Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009117 | SCV001168928 | likely pathogenic | not provided | 2018-11-15 | criteria provided, single submitter | clinical testing | The c.4794_4795insTC variant in the LOXHD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4794_4795insTC variant causes a frameshift starting with codon Isoleucine 599, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Ile1599SerfsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4794_4795insTCvariant is not observed in large population cohorts (Lek et al., 2016). We interpret c.4794_4795insTC as a likely pathogenic variant. |
Invitae | RCV001009117 | SCV002234368 | pathogenic | not provided | 2023-10-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile1599Serfs*4) in the LOXHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LOXHD1 are known to be pathogenic (PMID: 19732867, 21465660, 25792669). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LOXHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 817890). For these reasons, this variant has been classified as Pathogenic. |
Natera, |
RCV001275167 | SCV001460012 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 77 | 2020-09-16 | no assertion criteria provided | clinical testing |