ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3977G>A (p.Arg1326His)

dbSNP: rs371842938
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733644 SCV000861734 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
Invitae RCV001317332 SCV001507989 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-05-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1333 of the SYNE1 protein (p.Arg1333His). This variant is present in population databases (rs371842938, gnomAD 0.09%). 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: 597499). 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 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000733644 SCV004223966 uncertain significance not provided 2022-11-30 criteria provided, single submitter clinical testing BP4_strong
Athena Diagnostics Inc RCV000733644 SCV004229291 uncertain significance not provided 2023-06-09 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 higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.

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