ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.10048A>G (p.Asn3350Asp)

gnomAD frequency: 0.00005  dbSNP: rs145117891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713572 SCV000844197 uncertain significance not provided 2018-06-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000713572 SCV000855856 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
Invitae RCV001868331 SCV002172979 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 3357 of the SYNE1 protein (p.Asn3357Asp). This variant is present in population databases (rs145117891, gnomAD 0.009%). 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: 586698). 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 tolerated. 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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