ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6738C>A (p.Asn2246Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002633414 SCV003516194 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 2253 of the SYNE1 protein (p.Asn2253Lys). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002633415 SCV003726405 uncertain significance Inborn genetic diseases 2021-10-05 criteria provided, single submitter clinical testing The c.6759C>A (p.N2253K) alteration is located in exon 46 (coding exon 45) of the SYNE1 gene. This alteration results from a C to A substitution at nucleotide position 6759, causing the asparagine (N) at amino acid position 2253 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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