ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.10136G>A (p.Arg3379His)

gnomAD frequency: 0.00002  dbSNP: rs764835758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993104 SCV001145842 uncertain significance not provided 2019-05-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000993104 SCV003824727 uncertain significance not provided 2019-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005225187 SCV005869710 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-03-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 3386 of the SYNE1 protein (p.Arg3386His). This variant is present in population databases (rs764835758, gnomAD 0.008%). 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: 805537). 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.

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