ClinVar Miner

Submissions for variant NM_001363118.2(SLC52A2):c.297G>C (p.Trp99Cys) (rs782591841)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000664211 SCV001375970 uncertain significance Brown-Vialetto-Van Laere syndrome 2 2019-09-16 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 99 of the SLC52A2 protein (p.Trp99Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is present in population databases (rs782591841, ExAC 0.02%). This variant has been observed in combination with another SLC52A2 variant in an individual affected with clinical features of Brown-Vialetto-Van Laere syndrome (PMID: 29858556). ClinVar contains an entry for this variant (Variation ID: 549671). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Institute of Human Genetics,Cologne University RCV000664211 SCV000787770 pathogenic Brown-Vialetto-Van Laere syndrome 2 2018-04-25 no assertion criteria provided clinical testing

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