ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His)

gnomAD frequency: 0.00002  dbSNP: rs777618601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518223 SCV000615607 uncertain significance not specified 2016-12-05 criteria provided, single submitter clinical testing
Invitae RCV000525937 SCV000649107 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-06-10 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 448572). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs777618601, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 7020 of the SYNE1 protein (p.Asn7020His).
Revvity Omics, Revvity Omics RCV003139719 SCV003826991 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing

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