Submissions for variant NM_004171.4(SLC1A2):c.389T>C (p.Ile130Thr)

dbSNP: rs1851734643

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Neuberg Centre For Genomic Medicine, NCGM	RCV001823537	SCV002073045	uncertain significance	Developmental and epileptic encephalopathy, 41		criteria provided, single submitter	clinical testing	The missense variant p.I130T in SLC1A2 (NM_004171.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.I130T variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.I130T missense variant is predicted to be damaging by both SIFT and PolyPhen2. The isoleucine residue at codon 130 of SLC1A2 is conserved in all mammalian species. The nucleotide c.389 in SLC1A2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
Ambry Genetics	RCV004671450	SCV005169607	uncertain significance	Inborn genetic diseases	2024-03-20	criteria provided, single submitter	clinical testing	The c.389T>C (p.I130T) alteration is located in exon 4 (coding exon 4) of the SLC1A2 gene. This alteration results from a T to C substitution at nucleotide position 389, causing the isoleucine (I) at amino acid position 130 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.