ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His)

gnomAD frequency: 0.00001  dbSNP: rs758415122
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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 RCV000821738 SCV000962507 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-09-26 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SYNE1-related disease. This variant is present in population databases (rs758415122, ExAC 0.03%). This sequence change replaces asparagine with histidine at codon 3712 of the SYNE1 protein (p.Asn3712His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine.
Fulgent Genetics, Fulgent Genetics RCV002495175 SCV002785708 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 2022-01-06 criteria provided, single submitter clinical testing

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