Submissions for variant NM_001041.4(SI):c.3423+3A>G

gnomAD frequency: 0.00001  dbSNP: rs766943944

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001938982	SCV002204059	uncertain significance	not provided	2023-11-01	criteria provided, single submitter	clinical testing	This sequence change falls in intron 28 of the SI gene. It does not directly change the encoded amino acid sequence of the SI protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs766943944, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1429530). 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.
Fulgent Genetics, Fulgent Genetics	RCV002479474	SCV002780483	uncertain significance	Sucrase-isomaltase deficiency	2022-01-06	criteria provided, single submitter	clinical testing