Submissions for variant NM_025243.4(SLC19A3):c.265A>C (p.Ser89Arg)

dbSNP: rs759807393

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004782411	SCV005395544	uncertain significance	not specified	2024-09-09	criteria provided, single submitter	clinical testing	Variant summary: SLC19A3 c.265A>C (p.Ser89Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251488 control chromosomes. c.265A>C has been reported in the literature in compound heterozygous individuals affected with Basal ganglia disease, biotin-thiamine-responsive (Ogawa_2017, Lee_2020, Li_2020, Stenton_2022, Ko_2023, Kim_2023, Kobayashi_2022). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 36544340, 37645600, 36175418, 32020600, 32679198, 31967322). ClinVar contains an entry for this variant (Variation ID: 438726). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV000656114	SCV005656179	likely pathogenic	Biotin-responsive basal ganglia disease	2024-01-29	criteria provided, single submitter	clinical testing
Laboratory of Metabolic Disorders, Peking University First Hospital	RCV000656114	SCV000599770	pathogenic	Biotin-responsive basal ganglia disease	2017-09-14	no assertion criteria provided	research