Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156478 | SCV000206197 | uncertain significance | not specified | 2014-04-04 | criteria provided, single submitter | clinical testing | The His253Arg variant in MYO7A has not been previously reported in individuals w ith hearing loss, but has been identified in 0.05% (2/3912) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/). Although this variant has been seen in the general population, its freque ncy is not high enough to rule out pathogenicity. Computational prediction tools and conservation analyses do not provide strong support for or against an impac t to the protein. In summary, additional information is needed to determine the clinical significance of this variant. |
Gene |
RCV001571850 | SCV001796394 | uncertain significance | not provided | 2022-06-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Invitae | RCV001571850 | SCV003268157 | likely benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002515021 | SCV003655334 | uncertain significance | Inborn genetic diseases | 2021-12-14 | criteria provided, single submitter | clinical testing | The c.758A>G (p.H253R) alteration is located in exon 8 (coding exon 7) of the MYO7A gene. This alteration results from a A to G substitution at nucleotide position 758, causing the histidine (H) at amino acid position 253 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001826852 | SCV002093133 | uncertain significance | Usher syndrome type 1B | 2019-11-11 | no assertion criteria provided | clinical testing |