Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000710324 | SCV000840512 | likely benign | Nonsyndromic genetic hearing loss | 2018-09-28 | reviewed by expert panel | curation | The filtering allele frequency of the p.Arg946Cys variant in the MYO6 gene is 0.095% (39/30776) of South Asian chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/), which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal dominant hearing loss (BS1). |
Laboratory for Molecular Medicine, |
RCV000151470 | SCV000199525 | uncertain significance | not specified | 2013-08-16 | criteria provided, single submitter | clinical testing | The Arg946Cys variant in MYO6 has not been reported in individuals with hearing loss, but has been identified in 0.04% (4/8600) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs141845119). Although this variant has been seen in the general population, it s frequency is not high enough to rule out a pathogenic role. Computational anal yses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant cannot be determined with ce rtainty. |
Eurofins Ntd Llc |
RCV000487698 | SCV000228363 | uncertain significance | not provided | 2015-01-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000487698 | SCV000575489 | uncertain significance | not provided | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000487698 | SCV001021842 | likely benign | not provided | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000487698 | SCV001144694 | uncertain significance | not provided | 2019-03-21 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001162537 | SCV001324493 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 37 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Illumina Laboratory Services, |
RCV001162538 | SCV001324494 | likely benign | Autosomal dominant nonsyndromic hearing loss 22 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV000487698 | SCV001790778 | likely benign | not provided | 2020-10-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27068579) |
Prevention |
RCV003935273 | SCV004761824 | likely benign | MYO6-related condition | 2019-10-29 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000487698 | SCV001953362 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000487698 | SCV001975416 | likely benign | not provided | no assertion criteria provided | clinical testing |