Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156042 | SCV000205755 | likely benign | not specified | 2021-06-29 | criteria provided, single submitter | clinical testing | The p.Glu970del variant in MYO6 is likely benign because it has been identified in 0.08% (29/35102) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). The variant has been reported in 1 European individual with sensorineural hearing loss (Sommen 2016 PMID:27068579), and our lab has seen this variant in 1 individual with hearing loss who carried additional pathogenic variants sufficient to explain their clinical presentation. This variant has also been reported in ClinVar (Variation ID 179255). This variant is a deletion of 1 amino acids at position 970 and is not predicted to alter the protein reading-frame. ACMG/AMP Criteria applied:PM4_Supporting, BS1, BP5. |
Gene |
RCV000657951 | SCV000779721 | uncertain significance | not provided | 2020-12-28 | criteria provided, single submitter | clinical testing | The c.2907_2909delAGA variant in the MYO6 gene has been reported previously in association with nonsyndromic SNHL with limited evidence for pathogenicity (Sommen et al., 2016). The variant is observed in 1/836 (0.1196%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). The c.2907_2909delAGA variant results in an in-frame deletion of one amino acid. In summary, based on the currently available information, it is unclear whether this is a pathogenic variant or a rare benign variant. |
Eurofins Ntd Llc |
RCV000657951 | SCV000859392 | uncertain significance | not provided | 2018-02-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000657951 | SCV001021965 | likely benign | not provided | 2023-01-16 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV000156042 | SCV001984323 | uncertain significance | not specified | 2020-03-19 | criteria provided, single submitter | clinical testing |