ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.17591A>G (p.Asn5864Ser)

gnomAD frequency: 0.00006  dbSNP: rs566886977
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713710 SCV000844337 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001064084 SCV001228960 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-10-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 5864 of the SYNE2 protein (p.Asn5864Ser). This variant is present in population databases (rs566886977, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. ClinVar contains an entry for this variant (Variation ID: 586754). 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 RCV004026829 SCV003532489 uncertain significance not specified 2024-11-11 criteria provided, single submitter clinical testing The c.17591A>G (p.N5864S) alteration is located in exon 97 (coding exon 96) of the SYNE2 gene. This alteration results from a A to G substitution at nucleotide position 17591, causing the asparagine (N) at amino acid position 5864 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001064084 SCV003818803 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-11-08 criteria provided, single submitter clinical testing

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