Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000857239 | SCV000999826 | pathogenic | Autosomal recessive nonsyndromic hearing loss 42 | 2018-08-09 | criteria provided, single submitter | clinical testing | This variant is present in a homozygous state, the parents are consanguinous |
Invitae | RCV003558622 | SCV004293144 | pathogenic | not provided | 2023-04-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 695027). This premature translational stop signal has been observed in individual(s) with autosomal recessive deafness (PMID: 26226137). This variant is present in population databases (rs752714222, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Cys314*) in the ILDR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ILDR1 are known to be pathogenic (PMID: 21255762). |