ClinVar Miner

Submissions for variant NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)

gnomAD frequency: 0.00004  dbSNP: rs201128942
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413946 SCV000491590 pathogenic not provided 2023-02-06 criteria provided, single submitter clinical testing Identified in the compound heterozygous state with another SNX14 variant in a patient with early-onset epileptic encephalopathy in published literature (Tsuchida et al., 2018); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28940419, 36305856)
Centogene AG - the Rare Disease Company RCV001808789 SCV002059453 pathogenic Autosomal recessive spinocerebellar ataxia 20 2019-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000413946 SCV003279508 pathogenic not provided 2017-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu370*) in the SNX14 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs201128942, ExAC 0.005%). This variant has not been reported in the literature in individuals with SNX14-related disease. ClinVar contains an entry for this variant (Variation ID: 373031). Loss-of-function variants in SNX14 are known to be pathogenic (PMID: 25439728, 25848753). For these reasons, this variant has been classified as Pathogenic.
GenomeConnect, ClinGen RCV001808789 SCV002074902 not provided Autosomal recessive spinocerebellar ataxia 20 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 11-01-2016 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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