ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20546T>C (p.Val6849Ala)

gnomAD frequency: 0.00001  dbSNP: rs886043522
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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) RCV000380305 SCV000340530 uncertain significance not provided 2016-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000698716 SCV000827396 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-01-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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. This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 286929). This sequence change replaces valine with alanine at codon 6778 of the SYNE1 protein (p.Val6778Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.
GeneDx RCV000380305 SCV001990673 uncertain significance not provided 2019-03-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Athena Diagnostics RCV000380305 SCV005622605 uncertain significance not provided 2024-04-26 criteria provided, single submitter clinical testing

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