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. 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: 285707). This variant has not been reported in the literature in individuals affected with EMD-related conditions. 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 183 of the EMD protein (p.Pro183Leu).

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