ClinVar Genomic variation as it relates to human health
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
Germline
Classification
(4)
Likely pathogenic
criteria provided, single submitter
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 | |||
MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3578 | 4827 | |
MHRT | - | - | GRCh38 | - | 769 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 1, 2023 | RCV003455828.1 | |
Likely pathogenic (1) |
|
Nov 1, 2023 | RCV003455829.1 | |
Likely pathogenic (1) |
|
Nov 1, 2023 | RCV003456315.1 | |
Likely pathogenic (1) |
|
Nov 1, 2023 | RCV003456316.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 30, 2023