ClinVar Miner

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

gnomAD frequency: 0.00009  dbSNP: rs398123005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692632 SCV000820465 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3095 of the SYNE1 protein (p.Ala3095Thr). This variant is present in population databases (rs398123005, gnomAD 0.01%). This missense change has been observed in individual(s) with spastic paraplegia, mild intellectual disability, axonal neuropathy, and leukoencephalopathy in a (PMID: 24123876). This variant is also known as Ala3088Thr. ClinVar contains an entry for this variant (Variation ID: 242649). 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. 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 RCV001658072 SCV001880888 uncertain significance not provided 2020-12-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001658072 SCV003826359 uncertain significance not provided 2021-11-05 criteria provided, single submitter clinical testing

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