ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn)

dbSNP: rs1366322267
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819078 SCV000959720 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-10-04 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: 661623). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 3997 of the SYNE1 protein (p.Ser3997Asn).
Athena Diagnostics Inc RCV000993118 SCV001145863 uncertain significance not provided 2018-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000993118 SCV004160569 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing SYNE1: PM2

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