ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21907C>T (p.Leu7303Phe)

gnomAD frequency: 0.00001  dbSNP: rs753138419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517058 SCV000615617 uncertain significance not provided 2018-11-20 criteria provided, single submitter clinical testing
Invitae RCV001350017 SCV001544389 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 7232 of the SYNE1 protein (p.Leu7232Phe). This variant is present in population databases (rs753138419, gnomAD 0.05%). 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: 448578). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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