ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.548C>T (p.Pro183Leu)

dbSNP: rs104894805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000303060 SCV000338851 uncertain significance not provided 2016-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000303060 SCV002564138 likely pathogenic not provided 2022-05-01 criteria provided, single submitter clinical testing EMD: PM1, PM2, PM5, PP4, PS3:Supporting, PS4:Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV002519189 SCV003268697 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2021-12-24 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. This variant disrupts the p.Pro183 amino acid residue in EMD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10393813, 17067998, 26415001, 26675233). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 183 of the EMD protein (p.Pro183Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 285707). 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").

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