ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr) (rs398123005)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692632 SCV000820465 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 3095 of the SYNE1 protein (p.Ala3095Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs398123005, ExAC 0.01%). This variant has been observed to segregate with spastic paraplegia, mild intellectual disability, axonal neuropathy, and leukoencephalopathy in a (PMID: 24123876). This variant is also known as Ala3088Thr in the literature. ClinVar contains an entry for this variant (Variation ID: 92124). 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. 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.

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