ClinVar Miner

Submissions for variant NM_173500.4(TTBK2):c.2720A>G (p.Glu907Gly)

dbSNP: rs1476451255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331849 SCV001523989 uncertain significance Spinocerebellar ataxia type 11 2019-04-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Athena Diagnostics RCV004998830 SCV005621408 uncertain significance not provided 2023-10-27 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) This variant has been seen where an alternate explanation for disease was also identified, suggesting this variant may not cause disease. Computational tools predict that this variant is not damaging.

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