ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16409A>G (p.Asp5470Gly)

gnomAD frequency: 0.00001  dbSNP: rs747824937
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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) RCV000598464 SCV000707610 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000598464 SCV001145901 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001349372 SCV001543714 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-08-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 501297). 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 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. This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 5399 of the SYNE1 protein (p.Asp5399Gly). This variant is present in population databases (rs747824937, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions.
Revvity Omics, Revvity RCV000598464 SCV003826350 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing

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