ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19438A>C (p.Lys6480Gln)

gnomAD frequency: 0.00004  dbSNP: rs774558249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696543 SCV000825107 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-12-06 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 6409 of the SYNE1 protein (p.Lys6409Gln). This variant is present in population databases (rs774558249, gnomAD 0.03%). 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: 574577). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions.
Revvity Omics, Revvity RCV003489820 SCV004237928 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing

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