ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22915G>A (p.Ala7639Thr)

gnomAD frequency: 0.00010  dbSNP: rs376169744
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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) RCV000713638 SCV000338491 uncertain significance not provided 2016-01-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713638 SCV000844264 uncertain significance not provided 2024-07-30 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001305496 SCV001494833 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 7568 of the SYNE1 protein (p.Ala7568Thr). This variant is present in population databases (rs376169744, gnomAD 0.02%). 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: 285467). 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.
Revvity Omics, Revvity RCV000713638 SCV003824063 uncertain significance not provided 2021-04-22 criteria provided, single submitter clinical testing

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