ClinVar Miner

Submissions for variant NM_000127.2(EXT1):c.1019G>T (p.Arg340Leu) (rs119103287)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000002601 SCV000626124 pathogenic Multiple congenital exostosis 2019-07-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 340 of the EXT1 protein (p.Arg340Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (rs119103287, ExAC no frequency). This variant has been reported in several families and individuals affected with hereditary multiple osteochondromatosis (PMID: 8981950, 18330718, 26961984, 18165274, 19810120). This variant is also known as Arg339Leu in the literature. ClinVar contains an entry for this variant (Variation ID: 2495). Experimental studies have shown that this missense change results in loss of heparan sulfate expression (PMID: 11391482). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001003502 SCV000022759 pathogenic Multiple exostoses type 1 1997-01-01 no assertion criteria provided literature only

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