ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.229C>T (p.Pro77Ser)

dbSNP: rs1557182365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500737 SCV000594546 uncertain significance not specified 2016-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001349031 SCV001543358 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2020-10-15 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with EMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 435058). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 77 of the EMD protein (p.Pro77Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.

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