ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19111G>A (p.Gly6371Arg)

gnomAD frequency: 0.00001  dbSNP: rs572189966
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001901408 SCV002168435 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 6300 of the SYNE1 protein (p.Gly6300Arg). This variant is present in population databases (rs572189966, gnomAD 0.04%). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". 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 RCV003136288 SCV003825362 uncertain significance not provided 2021-01-07 criteria provided, single submitter clinical testing

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