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

dbSNP: rs113614842

Total submissions: 4

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
Invitae	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