ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer)

dbSNP: rs113614842
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730806 SCV000858569 benign not specified 2017-12-26 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000730806 SCV001984257 likely benign not specified 2020-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002533071 SCV003325712 uncertain significance Townes syndrome 2023-07-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SALL1-related conditions. This variant, c.466_477dup, results in the insertion of 4 amino acid(s) of the SALL1 protein (p.Ser156_Ser159dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 591869). 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.
Gharavi Laboratory, Columbia University RCV000723051 SCV000854182 uncertain significance not provided 2018-09-16 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004751679 SCV005350352 uncertain significance SALL1-related disorder 2024-03-30 no assertion criteria provided clinical testing The SALL1 c.466_477dup12 variant is predicted to result in an in-frame duplication (p.Ser156_Ser159dup). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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