ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13310T>C (p.Leu4437Pro)

gnomAD frequency: 0.00001  dbSNP: rs745789075
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592425 SCV000707608 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000592425 SCV001145874 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing
Invitae RCV001371238 SCV001567796 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-08-04 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 501295). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs745789075, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 4366 of the SYNE1 protein (p.Leu4366Pro).
Revvity Omics, Revvity RCV000592425 SCV003824549 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing

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