ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly)

gnomAD frequency: 0.00002  dbSNP: rs368938119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793839 SCV000933215 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 2114 of the SYNE1 protein (p.Ser2114Gly). This variant is present in population databases (rs368938119, gnomAD 0.004%). 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: 640746). 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.
Athena Diagnostics Inc RCV000993190 SCV001145984 uncertain significance not provided 2018-08-24 criteria provided, single submitter clinical testing

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