ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys)

gnomAD frequency: 0.00006  dbSNP: rs145738035
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822560 SCV000963369 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 4152 of the SYNE1 protein (p.Arg4152Cys). This variant is present in population databases (rs145738035, gnomAD 0.02%). 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: 664463). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
CeGaT Center for Human Genetics Tuebingen RCV003432782 SCV004160566 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing SYNE1: BP4
Baylor Genetics RCV004562807 SCV005049745 uncertain significance Autosomal recessive ataxia, Beauce type 2024-03-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV003432782 SCV005621977 uncertain significance not provided 2024-01-12 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) Computational tools predict that this variant is not damaging.

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