ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp)

gnomAD frequency: 0.00001  dbSNP: rs1159750019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334397 SCV001527237 uncertain significance Autosomal recessive ataxia, Beauce type 2018-01-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. The SYNE1 gene has also been linked to intellectual disability, microcephaly, brain stem and cerebellum hypoplasia and delayed myelination in one report [PMID: 26539891]
Labcorp Genetics (formerly Invitae), Labcorp RCV001865806 SCV002190764 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 glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 4807 of the SYNE1 protein (p.Glu4807Asp). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 1032318). 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 tolerated. 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 RCV003135993 SCV003825324 uncertain significance not provided 2022-05-24 criteria provided, single submitter clinical testing

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