ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His)

gnomAD frequency: 0.00002  dbSNP: rs369433602
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548457 SCV000649043 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-11 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 470999). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs369433602, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 4788 of the SYNE1 protein (p.Gln4788His).
CeGaT Center for Human Genetics Tuebingen RCV001531651 SCV001746881 uncertain significance not provided 2021-05-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001531651 SCV001880810 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing

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