ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22445A>G (p.Glu7482Gly)

dbSNP: rs1587952687
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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 RCV000804915 SCV000944853 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 649880). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 7411 of the SYNE1 protein (p.Glu7411Gly).
Ambry Genetics RCV002534799 SCV003588856 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.22232A>G (p.E7411G) alteration is located in exon 122 (coding exon 121) of the SYNE1 gene. This alteration results from a A to G substitution at nucleotide position 22232, causing the glutamic acid (E) at amino acid position 7411 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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