ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.454C>T (p.Arg152Cys) (rs376456050)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179255 SCV000231475 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing
Invitae RCV000616618 SCV000820492 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2020-08-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 152 of the EMD protein (p.Arg152Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs376456050, ExAC 0.006%). This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 23785128, 23349452). ClinVar contains an entry for this variant (Variation ID: 198043). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C3. The cysteine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. 5
Athena Diagnostics Inc RCV000179255 SCV001143862 likely benign not provided 2019-03-26 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000616618 SCV000734765 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked no assertion criteria provided clinical testing

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