Submissions for variant NM_012434.5(SLC17A5):c.703A>T (p.Thr235Ser)

gnomAD frequency: 0.00009  dbSNP: rs747385791

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001364632	SCV001560790	uncertain significance	Salla disease	2024-11-11	criteria provided, single submitter	clinical testing	This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 235 of the SLC17A5 protein (p.Thr235Ser). This variant is present in population databases (rs747385791, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1055885). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SLC17A5 protein function with a negative predictive value of 95%. 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.
Mayo Clinic Laboratories, Mayo Clinic	RCV001509276	SCV001715895	uncertain significance	not provided	2019-04-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001364632	SCV002027589	uncertain significance	Salla disease	2021-09-05	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001364632	SCV002076734	uncertain significance	Salla disease	2020-10-17	no assertion criteria provided	clinical testing