ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815777 SCV000956247 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-11-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with lysine at codon 794 of the SYNE1 protein (p.Ala794Lys). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and lysine. This variant is reported as two separate single-nucleotide changes in population databases (c.2380G>A ExAC 0.00005% and c.2381C>A, ExAC 0.00005%). However, in the read data for 5/5 individuals displayed in the ExAC browser, these two variants are in cis. This recapitulates the variant observed here (c.2380_2381delGCinsAA) and indicates that this variant is likely present in the population databases at 0.00005% This variant has not been reported in the literature in individuals with SYNE1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Athena Diagnostics Inc RCV000993163 SCV001145938 uncertain significance not provided 2019-08-12 criteria provided, single submitter clinical testing

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