Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002464058 | SCV002759212 | likely pathogenic | not provided | 2022-11-18 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein elongation as the last 6 amino acids are lost and replaced with 28 incorrect amino acids; This variant is associated with the following publications: (PMID: 17851452, 34652575) |
Fulgent Genetics, |
RCV000007376 | SCV002800968 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 3 | 2022-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002464058 | SCV004298182 | pathogenic | not provided | 2024-01-07 | criteria provided, single submitter | clinical testing | This sequence change results in a frameshift in the MYO15A gene (p.Ser3525Alafs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acid(s) of the MYO15A protein and extend the protein by 22 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.02%). This frameshift has been observed in individual(s) with deafness (PMID: 17851452). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6961). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000007376 | SCV000027575 | pathogenic | Autosomal recessive nonsyndromic hearing loss 3 | 2008-01-01 | no assertion criteria provided | literature only |