ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.578C>T (p.Ser193Phe)

dbSNP: rs1220835396
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001966893 SCV002248307 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2023-03-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 193 of the EMD protein (p.Ser193Phe). This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EMD protein function. ClinVar contains an entry for this variant (Variation ID: 1471669). This variant has not been reported in the literature in individuals affected with EMD-related conditions.

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