ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)

gnomAD frequency: 0.00001  dbSNP: rs119103243
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001288046 SCV001474860 pathogenic not provided 2022-07-28 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in multiple individuals with ataxia with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. This variant appears to segregate with disease in at least one family. This variant is also referred to as R2906X in published literature.
Revvity Omics, Revvity RCV001288046 SCV002018905 pathogenic not provided 2021-05-19 criteria provided, single submitter clinical testing
GeneDx RCV001288046 SCV003936443 pathogenic not provided 2023-06-30 criteria provided, single submitter clinical testing 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 a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 27178001, 17159980, 30275942, 23959263, 33397523)
OMIM RCV000002417 SCV000022575 pathogenic Autosomal recessive ataxia, Beauce type 2007-01-01 no assertion criteria provided literature only

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