ClinVar Miner

Submissions for variant NM_006563.5(KLF1):c.954G>C (p.Trp318Cys)

gnomAD frequency: 0.00001  dbSNP: rs769526751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493553 SCV004242964 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing
Invitae RCV003727640 SCV004539142 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 318 of the KLF1 protein (p.Trp318Cys). This variant is present in population databases (rs769526751, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of KLF1-related conditions (PMID: 30222867, 34535703). ClinVar contains an entry for this variant (Variation ID: 253309). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KLF1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Australian Red Cross Blood Service RCV000240027 SCV000298179 affects BLOOD GROUP--LUTHERAN INHIBITOR 2016-08-09 no assertion criteria provided research Serologic Lu(a-b-) phenotype but massively parallel sequencing did not identify any variants in the BCAM gene that could explain this phenotype. Reduced BCAM and CD44 expression by flow cytometry.

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