ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg)

gnomAD frequency: 0.00002  dbSNP: rs375476506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647632 SCV000769430 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-08-24 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 538392). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs375476506, gnomAD 0.05%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 8360 of the SYNE1 protein (p.His8360Arg).
Athena Diagnostics Inc RCV000713648 SCV000844275 benign not provided 2018-04-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000713648 SCV003824732 uncertain significance not provided 2020-10-25 criteria provided, single submitter clinical testing

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