ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.605C>T (p.Ala202Val)

gnomAD frequency: 0.00007  dbSNP: rs771803942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV001107846 SCV001265031 benign Exostoses, multiple, type 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV001107846 SCV001534145 uncertain significance Exostoses, multiple, type 2 2021-11-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 202 of the EXT2 protein (p.Ala202Val). This variant is present in population databases (rs771803942, gnomAD 0.1%). This missense change has been observed in individual(s) with multiple osteochondromatosis (PMID: 11170095, 26961984). ClinVar contains an entry for this variant (Variation ID: 879931). 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 tolerated. 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.

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