ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13289C>T (p.Ala4430Val)

gnomAD frequency: 0.00004  dbSNP: rs764402133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002733641 SCV003744137 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.13076C>T (p.A4359V) alteration is located in exon 77 (coding exon 76) of the SYNE1 gene. This alteration results from a C to T substitution at nucleotide position 13076, causing the alanine (A) at amino acid position 4359 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003778589 SCV004568398 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-01-02 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. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs764402133, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 4359 of the SYNE1 protein (p.Ala4359Val).

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