ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5713A>G (p.Ile1905Val)

gnomAD frequency: 0.00018  dbSNP: rs143467834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890402 SCV002156019 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-12 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs143467834, gnomAD 0.04%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1912 of the SYNE1 protein (p.Ile1912Val).
Fulgent Genetics, Fulgent Genetics RCV005038433 SCV005665962 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 2024-06-19 criteria provided, single submitter clinical testing

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