ClinVar Miner

Submissions for variant NM_001347702.2(SYNE1):c.1480C>T (p.Leu494Phe)

gnomAD frequency: 0.00006  dbSNP: rs200854314
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598020 SCV000709489 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001867996 SCV002280768 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-02-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 8268 of the SYNE1 protein (p.Leu8268Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs200854314, ExAC 0.05%). This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 502661). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV000598020 SCV003822734 uncertain significance not provided 2021-09-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000598020 SCV004229276 uncertain significance not provided 2023-03-23 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.

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