ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.271A>G (p.Asn91Asp)

dbSNP: rs2067879275
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042030 SCV001205688 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 91 of the EMD protein (p.Asn91Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with EMD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001042030 SCV003919918 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2021-03-30 criteria provided, single submitter clinical testing EMD NM_000117.2 exon 4 p.Asn91Asp (c.271A>G): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Natera, Inc. RCV001827254 SCV002084684 uncertain significance Emery-Dreifuss muscular dystrophy 2021-01-15 no assertion criteria provided clinical testing

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