ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His)

gnomAD frequency: 0.00009  dbSNP: rs367549881
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000262038 SCV000334033 uncertain significance not provided 2015-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765178 SCV000896413 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000765178 SCV001266998 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000765178 SCV002228389 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-11-24 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 1277 of the SYNE2 protein (p.Arg1277His). This variant is present in population databases (rs367549881, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. ClinVar contains an entry for this variant (Variation ID: 282516). 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.
Ambry Genetics RCV004021110 SCV003719346 uncertain significance not specified 2021-12-14 criteria provided, single submitter clinical testing The c.3830G>A (p.R1277H) alteration is located in exon 30 (coding exon 29) of the SYNE2 gene. This alteration results from a G to A substitution at nucleotide position 3830, causing the arginine (R) at amino acid position 1277 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000765178 SCV003818286 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-07-29 criteria provided, single submitter clinical testing

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