ClinVar Genomic variation as it relates to human health
NM_000298.6(PKLR):c.1705C>T (p.Arg569Trp)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(2)
Likely pathogenic(1); Uncertain significance(2)
criteria provided, conflicting classifications
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 | |||
PKLR | - | - |
GRCh38 GRCh38 GRCh37 |
305 | 332 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Feb 6, 2024 | RCV003134948.4 | |
PKLR-related disorder
|
Uncertain significance (1) |
|
Jun 20, 2023 | RCV003420572.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024