ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.559T>C (p.Ser187Pro) (rs794729012)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183443 SCV000235903 uncertain significance not provided 2012-09-10 criteria provided, single submitter clinical testing p.Ser187Pro c.559 TCC>CCC in exon 6 of the EMD gene (NM_000117.2): the Ser187Pro variant in the EMD gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Ser187Pro results in a non-conservative amino acid substitution of neutral, polar Serine with a non-polar Proline at a position that is not uniformly conserved across species. Mutations affecting a nearby codon (Pro183His, Pro183Thr) have been reported in association with Emery-Dreifuss muscular dystrophy, supporting the functional importance of this region of the protein. The NHLBI ESP Exome Variant Server reports Ser187Pro was not observed in approximately 6,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. In summary, the clinical significance of the Ser187Pro variant in the EMD gene is currently unknown. The variant is found in DCM panel(s).

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