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: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647632 SCV000769430 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-03-28 criteria provided, single submitter clinical testing 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). This variant is present in population databases (rs375476506, gnomAD 0.05%). 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: 538392). 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. 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.
Athena Diagnostics RCV000713648 SCV000844275 benign not provided 2018-04-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000713648 SCV003824732 uncertain significance not provided 2020-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005046832 SCV005665951 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 2024-05-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005046832 SCV006054675 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 2021-12-03 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV004544876 SCV004786852 uncertain significance SYNE1-related disorder 2024-02-19 no assertion criteria provided clinical testing The SYNE1 c.25079A>G variant is predicted to result in the amino acid substitution p.His8360Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.035% of alleles in individuals of East Asian descent in gnomAD. 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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