ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.77T>C (p.Val26Ala) (rs727505029)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156455 SCV000206174 uncertain significance not specified 2014-03-24 criteria provided, single submitter clinical testing The Val26Ala variant in EMD has not been previously reported in individuals with cardiomyopathy or Emery-Dreifuss muscular dystrophy. Data from large population studies is insufficient to assess the frequency of this variant. Computational prediction tools and conservation analysis suggest that this variant may not imp act the protein, though this information is not predictive enough to rule out pa thogenicity. Additional information is needed to fully assess the clinical signi ficance of the Val26Ala variant.
Invitae RCV001049941 SCV001214021 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 26 of the EMD protein (p.Val26Ala). The valine residue is weakly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with dilated cardiomyopathy in families (PMID: 26899768). ClinVar contains an entry for this variant (Variation ID: 179659). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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