ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala)

gnomAD frequency: 0.00002  dbSNP: rs774655615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000313098 SCV000338768 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765873 SCV000897270 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000313098 SCV005622119 uncertain significance not provided 2024-10-10 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 yielded discordant predictions regarding whether this amino acid change is damaging to the protein.

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