ClinVar Miner

Submissions for variant NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter)

dbSNP: rs1784370895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198150 SCV001368993 likely pathogenic Autosomal recessive spinocerebellar ataxia 20 2019-09-24 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV001198150 SCV002820113 likely pathogenic Autosomal recessive spinocerebellar ataxia 20 criteria provided, single submitter clinical testing The stop gained p.Q434* in SNX14 (NM_153816.6) has been reported to ClinVar as Likely Pathogenic, but no details are available for independent assesment. The variant has not been reported in affected individuals. The p.Q434* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been reported previously to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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