ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.595G>A (p.Glu199Lys)

gnomAD frequency: 0.00001  dbSNP: rs1335783881
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000791266 SCV000930550 uncertain significance TONSL-related disorder 2016-11-01 criteria provided, single submitter clinical testing This individual has been reported in PMID: 30773277 (family 7).
Labcorp Genetics (formerly Invitae), Labcorp RCV001869238 SCV002226112 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 199 of the TONSL protein (p.Glu199Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of sponastrime dysplasia (PMID: 30773277). ClinVar contains an entry for this variant (Variation ID: 638067). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV000790533 SCV000929865 pathogenic Sponastrime dysplasia 2019-07-24 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001261770 SCV001439086 likely pathogenic Skeletal dysplaisia with extra-skeletal manifestations no assertion criteria provided research

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