ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.4115C>T (p.Thr1372Ile)

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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 RCV004785925 SCV005401065 uncertain significance Cerebellar dysfunction with variable cognitive and behavioral abnormalities criteria provided, single submitter clinical testing The observed missense variant c.4115C>T(p.Thr1372Ile) in CAMTA1 gene has not been reported previously as a pathogenic variantnor as a benign variant, to our knowledge. The c.4115C>T(p.Thr1372Ile) variant is absent in gnomAD Exomes. The amino acid Thr atposition 1372 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemicalproperties. Computational evidence (Polyphen-Benign, SIFT-damaging and Mutation Taster-disease causing) predicts conflictingevidence on protein structure and function for this variant. The reference amino acid p.Thr1372Ile in CAMTA1 is predicted asconserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as UncertainSignificance.

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