ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.23240T>A (p.Ile7747Asn)

gnomAD frequency: 0.00002  dbSNP: rs1435183530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516741 SCV000615628 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing
Invitae RCV002527542 SCV003449122 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-12 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 448585). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 7676 of the SYNE1 protein (p.Ile7676Asn).

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