Submissions for variant NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His)

dbSNP: rs201305817

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001245244	SCV001418518	uncertain significance	Lysinuric protein intolerance	2022-06-04	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 404 of the SLC7A7 protein (p.Arg404His). This variant is present in population databases (rs201305817, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SLC7A7-related conditions. ClinVar contains an entry for this variant (Variation ID: 969815). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002264249	SCV002542949	uncertain significance	Autoinflammatory syndrome	2018-10-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001245244	SCV002797039	uncertain significance	Lysinuric protein intolerance	2022-02-27	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001245244	SCV002091177	uncertain significance	Lysinuric protein intolerance	2020-05-25	no assertion criteria provided	clinical testing