ClinVar Miner

Submissions for variant NM_015001.3(SPEN):c.6886A>G (p.Thr2296Ala)

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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 RCV004785917 SCV005401045 uncertain significance Radio-Tartaglia syndrome 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.6886A>G(p.Thr2296Ala) variant in SPEN gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. he p.Thr2296Ala variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidences (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Polymorphism) predict no damaging effect on protein structure and function for this variant. The reference amino acid change at this position on SPEN gene is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Thr at position 2296 is changed to a Ala changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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