ClinVar Genomic variation as it relates to human health
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Uncertain significance
for
Usher syndrome
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MYO7A | - | - |
GRCh38 GRCh37 |
4277 | 4288 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 3, 2017 | RCV000154342.12 | |
Benign (1) |
|
Apr 27, 2017 | RCV000406568.12 | |
Uncertain significance (1) |
|
Jan 18, 2023 | RCV000787987.11 | |
Uncertain significance (4) |
|
Oct 24, 2022 | RCV000994688.33 | |
Uncertain significance (3) |
|
Sep 24, 2021 | RCV001003087.14 | |
Uncertain significance (2) |
|
Feb 3, 2022 | RCV000844912.9 | |
Uncertain significance (1) |
|
Sep 16, 2020 | RCV001272505.8 | |
Uncertain significance (1) |
|
- | RCV003152592.8 | |
MYO7A-related disorder
|
Pathogenic (1) |
|
Apr 27, 2017 | RCV004528885.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs368341987 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Jun 10, 2024