Submissions for variant NM_177550.5(SLC13A5):c.1696_1697del (p.His565_Ile566insTer)

dbSNP: rs1311685227

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000817124	SCV000957669	uncertain significance	Developmental and epileptic encephalopathy, 25	2022-06-13	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ile566*) in the SLC13A5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acid(s) of the SLC13A5 protein. This variant is present in population databases (no rsID available, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with SLC13A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 660015). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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	RCV003480865	SCV004224305	uncertain significance	not provided	2023-03-17	criteria provided, single submitter	clinical testing	PVS1_moderate