ClinVar Miner

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

dbSNP: rs483352838
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Total submissions: 3
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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
Invitae 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, Oslo University Hospital RCV000087157 SCV000120019 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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