ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.3847G>A (p.Glu1283Lys)

dbSNP: rs1962320101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001250545 SCV001425359 uncertain significance Townes-Brocks syndrome 1 2020-03-31 criteria provided, single submitter clinical testing This SALL1 variant is absent from a large population dataset and has not been reported in the literature, to our knowledge. Of three bioinformatics tools queried, two predicts that the substitution would be damaging while one predicts that it would be neutral. The glutamic acid residue at this position is evolutionarily conserved across higher order species, but not in fish and is not predicted to impact canonical exon 3 splicing. Due to lack of segregation and functional data, we consider the clinical significance of c.3847G>A to be uncertain at this time.

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