Submissions for variant NM_025243.4(SLC19A3):c.892T>G (p.Tyr298Asp)

dbSNP: rs2106328613

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001911659	SCV002175482	uncertain significance	Biotin-responsive basal ganglia disease	2021-01-15	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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC19A3 protein function. This variant has not been reported in the literature in individuals with SLC19A3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with aspartic acid at codon 298 of the SLC19A3 protein (p.Tyr298Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	RCV001911659	SCV004041607	uncertain significance	Biotin-responsive basal ganglia disease		criteria provided, single submitter	clinical testing