Submissions for variant NM_018344.6(SLC29A3):c.303_320dup (p.Tyr102_Leu107dup)

dbSNP: rs1846497179

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001202556	SCV001373672	uncertain significance	H syndrome	2019-07-18	criteria provided, single submitter	clinical testing	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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with SLC29A3-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.303_320dup, results in the insertion of 6 amino acid(s) to the SLC29A3 protein (p.Tyr102_Leu107dup), but otherwise preserves the integrity of the reading frame.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV003321807	SCV004026222	uncertain significance	not provided	2021-07-19	criteria provided, single submitter	clinical testing	PM2_SUP
Yale Center for Mendelian Genomics, Yale University	RCV001849483	SCV002106998	pathogenic	Dysosteosclerosis	2021-07-01	no assertion criteria provided	literature only