ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.477_478insAGCGGC (p.Gly160_Gly161insSerGly) (rs1555475415)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000350628 SCV000334375 likely benign not specified 2018-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000766499 SCV000573951 uncertain significance not provided 2017-12-26 criteria provided, single submitter clinical testing The c.477_478insAGCGGC variant in the SALL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.477_478insAGCGGC variant causes an in-frame insertion of two amino acid residues, denoted p.Ser159_Gly160insSerGly. The c.477_478insAGCGGC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.477_478insAGCGGC as a variant of uncertain significance.

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