ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.871C>T (p.Gln291Ter)

dbSNP: rs1962424706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205091 SCV001376327 pathogenic Townes syndrome 2019-08-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is expected to result in a truncated protein lacking all double zinc finger (DZF) domains which are critical for SALL1 protein function (PMID: 16088922, 9973281) This variant has not been reported in the literature in individuals with SALL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the SALL1 gene (p.Gln291*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1034 amino acids of the SALL1 protein.
Neonatal Intensive Care Unit, Fujian Provincial Hospital RCV003322867 SCV004027623 likely pathogenic Townes-Brocks syndrome 1 2023-07-13 criteria provided, single submitter clinical testing

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