ClinVar Miner

Submissions for variant NM_006831.3(CLP1):c.1214C>T (p.Ala405Val)

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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 RCV003338212 SCV004047230 uncertain significance Pontocerebellar hypoplasia type 10 criteria provided, single submitter clinical testing The missense variant c.1214C>T (p.Ala405Val) in CLP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ala405Val variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.00003987% is reported in gnomAD. The amino acid Ala at position 405 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ala405Val in CLP1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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