Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001195387 | SCV001365736 | uncertain significance | not specified | 2019-07-31 | criteria provided, single submitter | clinical testing | The p.Ala886Thr variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome but has been identified in 0.008% (3/35280) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting. |
Invitae | RCV001419885 | SCV001622152 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001419885 | SCV001875306 | uncertain significance | not provided | 2021-08-03 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002561035 | SCV003709135 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.2656G>A (p.A886T) alteration is located in exon 22 (coding exon 21) of the MYO7A gene. This alteration results from a G to A substitution at nucleotide position 2656, causing the alanine (A) at amino acid position 886 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001279407 | SCV001466502 | uncertain significance | Usher syndrome type 1B | 2020-04-16 | no assertion criteria provided | clinical testing |