ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)

dbSNP: rs1954089713
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197720 SCV001368499 uncertain significance Exostoses, multiple, type 2 2018-11-07 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Invitae RCV001197720 SCV002138595 uncertain significance Exostoses, multiple, type 2 2022-03-07 criteria provided, single submitter clinical testing 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. 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: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 931287). This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 163 of the EXT2 protein (p.Asn163Tyr).
Baylor Genetics RCV001197720 SCV004192831 uncertain significance Exostoses, multiple, type 2 2023-06-21 criteria provided, single submitter clinical testing

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