ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.3086C>T (p.Pro1029Leu)

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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 RCV004727213 SCV005329639 uncertain significance Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.3086C>T(p.Pro1029Leu) in CACNA1G gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant has allele frequency of 0.002% in gnomAD exomes database. This variant has not been reported to the ClinVar database. Multiple lines of computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - disease causing) predict conflicting evidences on protein structure and function for this variant. The amino acidchange p.Pro1029Leu in CACNA1G is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Pro at position 1029 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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