ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19199G>A (p.Arg6400His)

gnomAD frequency: 0.00008  dbSNP: rs746141355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000381966 SCV000335349 uncertain significance not provided 2015-09-15 criteria provided, single submitter clinical testing
Invitae RCV001039190 SCV001202707 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-08-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs746141355, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 6329 of the SYNE1 protein (p.Arg6329His). 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: 283332). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine 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 Omics RCV000381966 SCV003827033 uncertain significance not provided 2021-03-15 criteria provided, single submitter clinical testing

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