ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu)

dbSNP: rs1954415964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001263555 SCV003786522 pathogenic Exostoses, multiple, type 2 2022-01-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects EXT2 function (PMID: 30806661). 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 C0"). ClinVar contains an entry for this variant (Variation ID: 983552). This missense change has been observed in individual(s) with hereditary multiple osteochondromatosis (PMID: 30806661; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 351 of the EXT2 protein (p.Pro351Leu).
OMIM RCV001263555 SCV001441616 pathogenic Exostoses, multiple, type 2 2020-11-06 no assertion criteria provided literature only

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