ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys)

gnomAD frequency: 0.00017  dbSNP: rs35484093
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000280880 SCV000333730 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000805485 SCV000945442 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 4651 of the SYNE1 protein (p.Glu4651Lys). This variant is present in population databases (rs35484093, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 282320).
GeneDx RCV000280880 SCV001822499 uncertain significance not provided 2025-03-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000280880 SCV003824645 uncertain significance not provided 2019-06-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000280880 SCV005620512 uncertain significance not provided 2024-04-26 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Polyphen and MutationTaster predict this amino acid change may be benign.

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