ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12658G>A (p.Asp4220Asn)

gnomAD frequency: 0.00002  dbSNP: rs201449723
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000331919 SCV000344880 uncertain significance not provided 2016-08-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001814978 SCV002061998 uncertain significance not specified 2018-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859716 SCV002129412 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-10 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 290340). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs201449723, gnomAD 0.03%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 4149 of the SYNE1 protein (p.Asp4149Asn).
Revvity Omics, Revvity RCV000331919 SCV003826489 uncertain significance not provided 2020-03-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000331919 SCV005622596 uncertain significance not provided 2024-06-11 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) This variant has been seen where an alternate explanation for disease was also identified, suggesting this variant may not cause disease. Polyphen and MutationTaster yielded discordant predictions regarding whether this amino acid change is damaging to the protein.

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