ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.15350T>C (p.Met5117Thr)

gnomAD frequency: 0.00009  dbSNP: rs150761564
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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) RCV000349025 SCV000336619 uncertain significance not provided 2015-11-06 criteria provided, single submitter clinical testing
Invitae RCV001855136 SCV002283435 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 5046 of the SYNE1 protein (p.Met5046Thr). This variant is present in population databases (rs150761564, gnomAD 0.01%). 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: 284130). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Ambry Genetics RCV002518909 SCV003641868 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.15137T>C (p.M5046T) alteration is located in exon 79 (coding exon 78) of the SYNE1 gene. This alteration results from a T to C substitution at nucleotide position 15137, causing the methionine (M) at amino acid position 5046 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000349025 SCV003824040 uncertain significance not provided 2021-04-16 criteria provided, single submitter clinical testing

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