Submissions for variant NM_001003841.3(SLC6A19):c.1701+1G>A

gnomAD frequency: 0.00005  dbSNP: rs756010661

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262680	SCV001440631	uncertain significance	Hyperglycinuria	2019-01-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002533872	SCV003525628	uncertain significance	not provided	2022-09-01	criteria provided, single submitter	clinical testing	This sequence change affects a donor splice site in intron 11 of the SLC6A19 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs756010661, gnomAD 0.006%). Disruption of this splice site has been observed in individual(s) with Hartnup disorder (PMID: 15286788). This variant is also known as IVS11+1A. ClinVar contains an entry for this variant (Variation ID: 623442). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003989596	SCV004807102	likely pathogenic	Neutral 1 amino acid transport defect	2024-03-26	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Polish Academy of Sciences	RCV000785715	SCV000891467	uncertain significance	High myopia	2018-12-17	no assertion criteria provided	research