ClinVar Genomic variation as it relates to human health
NM_001355436.2(SPTB):c.6269+3G>T
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
SPTB | - | - |
GRCh38 GRCh37 |
1023 | 1055 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 1, 1991 | RCV000013680.29 |
Citations for germline classification of this variant
HelpText-mined citations for rs863223302 ...
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 Mar 26, 2023
Genomic mutation in the 5-prime donor splice site of the intron following the Y exon of beta-spectrin causes loss of the Y exon from the mRNA product.
NCBI staff reviewed the sequence information reported in PubMed 2056132 Fig. 3 to determine the location of this allele on the current reference sequence.