ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.2210T>C (p.Val737Ala)

gnomAD frequency: 0.00009  dbSNP: rs746347703
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000405818 SCV000343974 uncertain significance not provided 2016-07-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000405818 SCV001250181 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV001349999 SCV001544369 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 744 of the SYNE1 protein (p.Val744Ala). This variant is present in population databases (rs746347703, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 289589). 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.
Revvity Omics, Revvity RCV000405818 SCV003825224 uncertain significance not provided 2019-11-19 criteria provided, single submitter clinical testing

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