ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu)

gnomAD frequency: 0.00028  dbSNP: rs141996707
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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) RCV000713675 SCV000344789 uncertain significance not provided 2018-04-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713675 SCV000844302 uncertain significance not provided 2021-03-19 criteria provided, single submitter clinical testing
Invitae RCV000803436 SCV000943307 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1731 of the SYNE1 protein (p.Phe1731Leu). This variant is present in population databases (rs141996707, gnomAD 0.08%). 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: 290268). 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 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.
Ambry Genetics RCV002518126 SCV003544833 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.5191T>C (p.F1731L) alteration is located in exon 39 (coding exon 38) of the SYNE1 gene. This alteration results from a T to C substitution at nucleotide position 5191, causing the phenylalanine (F) at amino acid position 1731 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000713675 SCV003822769 uncertain significance not provided 2019-03-22 criteria provided, single submitter clinical testing

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