ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) (rs145494541)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000393266 SCV000615618 uncertain significance not specified 2017-06-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725416 SCV000336809 uncertain significance not provided 2015-11-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300395 SCV000460991 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340078 SCV000460992 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000822036 SCV000962816 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-07-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 7247 of the SYNE1 protein (p.Ala7247Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs145494541, ExAC 0.01%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 284257). 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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