ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) (rs267606686)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000000166 SCV000775598 uncertain significance Brown-Vialetto-Van Laere syndrome 1 2017-11-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 36 of the SLC52A3 protein (p.Glu36Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs267606686, ExAC 0.007%). This variant has been reported in individuals affected with Brown-Vialetto-Van Laere syndrome (BVVLS) (PMID: 20206331, 23688382). ClinVar contains an entry for this variant (Variation ID: 143). Experimental studies have shown that this missense change reduces riboflavin uptake and protein cell surface expression (PMID: 22273710). 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 RCV000000166 SCV000020309 pathogenic Brown-Vialetto-Van Laere syndrome 1 2010-03-12 no assertion criteria provided literature only
GeneReviews RCV000000166 SCV000246209 pathogenic Brown-Vialetto-Van Laere syndrome 1 2015-03-17 no assertion criteria provided literature only

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