ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His)

gnomAD frequency: 0.00009  dbSNP: rs199962439
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000368276 SCV000345539 uncertain significance not provided 2018-01-11 criteria provided, single submitter clinical testing
Invitae RCV000803669 SCV000943551 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-06-04 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 290881). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs199962439, gnomAD 0.01%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 577 of the SYNE1 protein (p.Tyr577His).
Athena Diagnostics Inc RCV000368276 SCV001145904 uncertain significance not provided 2018-12-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000368276 SCV003825225 uncertain significance not provided 2019-11-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000368276 SCV004223970 uncertain significance not provided 2023-06-05 criteria provided, single submitter clinical testing

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