ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu)

gnomAD frequency: 0.00003  dbSNP: rs149940427
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647625 SCV000769423 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-04-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 8047 of the SYNE1 protein (p.Asp8047Glu). This variant is present in population databases (rs149940427, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 538386). 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 C0". The glutamic 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.
Revvity Omics, Revvity RCV003140034 SCV003824600 uncertain significance not provided 2020-03-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147527 SCV003836245 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-02-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533387 SCV004116811 uncertain significance SYNE1-related disorder 2023-05-09 criteria provided, single submitter clinical testing The SYNE1 c.24141C>G variant is predicted to result in the amino acid substitution p.Asp8047Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-152472784-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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