Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000519816 | SCV000711951 | benign | not specified | 2016-05-21 | criteria provided, single submitter | clinical testing | c.3130_3147dup in exon 2 of MYO15A: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence, r esults in an in-frame duplication of 6 amino acids, and has been identified in 1 .5% (145/9686) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs377177611, rs775957610). |
Gene |
RCV001534812 | SCV001751775 | likely benign | not provided | 2020-05-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001534812 | SCV003249718 | uncertain significance | not provided | 2022-09-19 | criteria provided, single submitter | clinical testing | This variant, c.3130_3147dup, results in the insertion of 6 amino acid(s) of the MYO15A protein (p.Ile1044_Asp1049dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYO15A-related conditions. ClinVar contains an entry for this variant (Variation ID: 449948). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV000519816 | SCV000618432 | likely benign | not specified | 2018-03-05 | flagged submission | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |