Submissions for variant NM_000452.3(SLC10A2):c.495A>T (p.Ile165=)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002861907	SCV003222304	uncertain significance	not provided	2022-04-28	criteria provided, single submitter	clinical testing	This variant is present in population databases (rs188025424, gnomAD 0.01%). This sequence change affects codon 165 of the SLC10A2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLC10A2 protein. It affects a nucleotide within the consensus splice site. This variant has not been reported in the literature in individuals affected with SLC10A2-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing.
PreventionGenetics, part of Exact Sciences	RCV003943512	SCV004761730	likely benign	SLC10A2-related disorder	2023-10-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).