ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.17454A>T (p.Lys5818Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004095001 SCV003557964 uncertain significance not specified 2021-07-14 criteria provided, single submitter clinical testing The c.17454A>T (p.K5818N) alteration is located in exon 96 (coding exon 95) of the SYNE2 gene. This alteration results from a A to T substitution at nucleotide position 17454, causing the lysine (K) at amino acid position 5818 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003603136 SCV004517732 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-08-17 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 2237065). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 5818 of the SYNE2 protein (p.Lys5818Asn).

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