ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly)

dbSNP: rs1555475415
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000350628 SCV000334375 likely benign not specified 2018-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000766499 SCV000573951 benign not provided 2021-05-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003105844 SCV003781983 uncertain significance Townes syndrome 2024-01-13 criteria provided, single submitter clinical testing This variant, c.477_478insAGCGGC, results in the insertion of 2 amino acid(s) of the SALL1 protein (p.Ser159_Gly160insSerGly), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SALL1-related conditions. This variant has been observed in at least one individual who was not affected with SALL1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 282759). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV000766499 SCV004139362 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing SALL1: BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000766499 SCV001740938 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000766499 SCV001797308 likely benign not provided no assertion criteria provided clinical testing

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