ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.5261A>G (p.Lys1754Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448842 SCV004176623 uncertain significance Elliptocytosis 2 2023-02-14 criteria provided, single submitter clinical testing The missense c.5261A>G (p.Lys1754Arg) variant in SPTA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Lys1754Arg variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Lys at position 1754 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Lys1754Arg in SPTA1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS)

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