ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.3005_3008del (p.Ala1002fs) (rs1597228188)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821059 SCV000961800 pathogenic Townes syndrome 2018-10-23 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SALL1 gene (p.Ala1002Valfs*42). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 323 amino acids 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 SALL1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the C-terminus of the SALL1 protein. Other variant(s) that disrupt this region (p.Cys1139Trpfs*35) have been determined to be pathogenic (PMID: 16971658, 23894113, 19429598, 18000979, 23894113, 17221874). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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