Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990155 | SCV001140992 | benign | BLOOD GROUP--LUTHERAN INHIBITOR | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000087157 | SCV004297904 | pathogenic | not provided | 2023-06-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 100799). This premature translational stop signal has been observed in individual(s) with autosomal recessive congenital hemolytic anemia (PMID: 24443441, 31645145, 34227100). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs483352838, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Gly176Argfs*179) in the KLF1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 187 amino acid(s) of the KLF1 protein. |
Department of Medical Genetics, |
RCV000087157 | SCV000120019 | probable-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. | |
OMIM | RCV004777574 | SCV005367939 | pathogenic | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb | 2024-10-04 | no assertion criteria provided | literature only | |
OMIM | RCV004777573 | SCV005367947 | affects | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 | 2024-10-04 | no assertion criteria provided | literature only |