ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.750dup (p.Arg251fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218743 SCV001390641 pathogenic Townes syndrome 2019-07-01 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SALL1 gene (p.Arg251Serfs*19). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SALL1-related conditions. Truncating variants in the SALL1 gene are known to cause Townes-Brocks syndrome by haploinsufficiency (PMID: 16429401, 22308078) or by a dominant negative mechanism (PMID: 29395072). Truncations both upstream (p.Thr105Glnfs*78) and downstream (p.Arg260*) of this variant have been shown to be clinically significant and are consistent with a dominant negative mechanism (PMID: 17221874, 16088922, Invitae). This suggests that deletion of this region of the SALL1 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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