ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg)

gnomAD frequency: 0.00003  dbSNP: rs764715827
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506435 SCV000605330 uncertain significance not specified 2019-01-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727212 SCV000706644 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000727212 SCV001145923 uncertain significance not provided 2019-03-20 criteria provided, single submitter clinical testing
Invitae RCV001857276 SCV002272075 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-31 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 7201 of the SYNE1 protein (p.Lys7201Arg). This variant is present in population databases (rs764715827, gnomAD 0.01%). 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: 440316). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25". 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.

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