ClinVar Miner

Submissions for variant NM_003194.5(TBP):c.410C>T (p.Pro137Leu)

gnomAD frequency: 0.00001  dbSNP: rs142540266
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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 RCV001336551 SCV001529959 uncertain significance Spinocerebellar ataxia type 17 2018-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004671347 SCV005168612 uncertain significance Inborn genetic diseases 2024-04-15 criteria provided, single submitter clinical testing The c.410C>T (p.P137L) alteration is located in exon 3 (coding exon 2) of the TBP gene. This alteration results from a C to T substitution at nucleotide position 410, causing the proline (P) at amino acid position 137 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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