Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482590 | SCV000571184 | uncertain significance | not provided | 2023-05-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26969326) |
Laboratory for Molecular Medicine, |
RCV000825982 | SCV000967470 | uncertain significance | not specified | 2018-08-08 | criteria provided, single submitter | clinical testing | The p.Thr1639Met variant in MYO7A has been reported in 1 individual who harbored a second variant of uncertain significance in MYO7A (Sloan-Heggen 2016). This v ariant has been identified in 0.23% (54/24014) of African chromosomes by the Gen ome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/) and is repo rted in ClinVar (Variation ID: 421863). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogeni c role. Computational prediction tools and conservation analysis suggest that th e p.Thr1630Met variant may impact the protein, though this information is not pr edictive enough to determine pathogenicity. In summary, the clinical significanc e of the p.Thr1639Met variant is uncertain. ACMG/AMP Criteria applied: PP3, BS1_ Supporting. |
Invitae | RCV000482590 | SCV001066946 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing |