ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg)

gnomAD frequency: 0.00044  dbSNP: rs145075161
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993151 SCV001145921 likely benign not provided 2018-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000993151 SCV001779835 uncertain significance not provided 2021-06-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001858767 SCV002137244 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-12-14 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 6930 of the SYNE1 protein (p.Lys6930Arg). This variant is present in population databases (rs145075161, gnomAD 0.2%). 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: 805563). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The arginine 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.
Revvity Omics, Revvity RCV000993151 SCV003826429 uncertain significance not provided 2020-12-10 criteria provided, single submitter clinical testing

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