ClinVar Miner

Submissions for variant NM_153816.6(SNX14):c.739C>G (p.Leu247Val)

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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 RCV004785924 SCV005401060 uncertain significance Autosomal recessive spinocerebellar ataxia 20 criteria provided, single submitter clinical testing The observed missense c.739C>G(p.Leu247Val) variant in SNX14 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is present with an allele frequency of 0.03% in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - Probably Damaging , SIFT - Damaging and MutationTaster - Disease causing) predict damaging effect on protein structure and function for this variant. The reference amino acid in SNX14 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Leu at position 247 is changed to a Val 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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