ClinVar Miner

Submissions for variant NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val)

gnomAD frequency: 0.00001  dbSNP: rs121908677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000006589 SCV001224265 uncertain significance Lysinuric protein intolerance 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 54 of the SLC7A7 protein (p.Gly54Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs121908677, ExAC 0.02%). This missense change has been observed in individuals with lysinuric protein intolerance (PMID: 10655553). ClinVar contains an entry for this variant (Variation ID: 6211). 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. Experimental studies have shown that this missense change affects SLC7A7 function (PMID: 10655553, 11883940, 23940088). 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.
OMIM RCV000006589 SCV000026772 pathogenic Lysinuric protein intolerance 2008-01-01 no assertion criteria provided literature only

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