ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.264G>C (p.Lys88Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002453058 SCV002739423 uncertain significance Cardiovascular phenotype 2021-04-16 criteria provided, single submitter clinical testing The p.K88N variant (also known as c.264G>C), located in coding exon 3 of the EMD gene, results from a G to C substitution at nucleotide position 264. The lysine at codon 88 is replaced by asparagine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.001% (2/205221) total alleles studied, with no hemizygotes observed. The highest observed frequency was 0.002% (2/9255) of non-Finnish European alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150568 SCV003838482 uncertain significance Cardiomyopathy 2021-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005098235 SCV005833255 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2025-01-14 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 88 of the EMD protein (p.Lys88Asn). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with EMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1794316). 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. 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.

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