ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.866T>A (p.Leu289Ter) (rs1555475334)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634150 SCV000755449 pathogenic Townes syndrome 2017-12-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SALL1 gene (p.Leu289*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1036 amino acids (~78%) of the SALL1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a SALL1-related disease. This variant is expected to result in a truncated protein lacking all DZF domains which are critical for SALL1 protein function. For these reasons, this variant has been classified as Pathogenic.

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