ClinVar Miner

Submissions for variant NM_006563.5(KLF1):c.519_525dup (p.Gly176fs)

dbSNP: rs483352838
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Total submissions: 5
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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 (formerly Invitae), Labcorp RCV000087157 SCV004297904 pathogenic not provided 2023-06-02 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs483352838, gnomAD 0.02%). 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. ClinVar contains an entry for this variant (Variation ID: 100799). For these reasons, this variant has been classified as Pathogenic.
Department of Medical Genetics, Oslo University Hospital 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

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