ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13751T>A (p.Val4584Asp)

dbSNP: rs968829958
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647649 SCV000769447 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-08-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002260515 SCV002540262 uncertain significance Autosomal recessive ataxia, Beauce type 2022-01-21 criteria provided, single submitter clinical testing The SYNE1 c.13751T>A (p.Val4584Asp) missense variant results in the substitution of valine at amino acid position 13751 with aspartic acid. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is reported in the Genome Aggregation Database in one allele at a frequency of 0.000009 in the European (non-Finnish) population (version 2.1.1). Based on the available evidence, the c.13751T>A (p.Val4584Asp) variant is classified as a variant of uncertain significance for SYNE1-related cerebellar ataxia.

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