ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.340G>A (p.Glu114Lys)

dbSNP: rs727503303
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151374 SCV000199373 likely benign not specified 2013-09-13 criteria provided, single submitter clinical testing Glu114Lys in exon 3 of MYLK2: This variant is not expected to have clinical sign ificance due to a lack of conservation across species, including mammals. Of not e, multiple mammals have a lysine (Lys) at this position despite high nearby ami no acid conservation. In addition, computational analyses (AlignGVGD, PolyPhen2, SIFT) do not suggest a high likelihood of impact to the protein.
Ambry Genetics RCV000151374 SCV005451570 uncertain significance not specified 2024-08-20 criteria provided, single submitter clinical testing The c.340G>A (p.E114K) alteration is located in exon 3 (coding exon 2) of the MYLK2 gene. This alteration results from a G to A substitution at nucleotide position 340, causing the glutamic acid (E) at amino acid position 114 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005089736 SCV005822420 uncertain significance Hypertrophic cardiomyopathy 1 2024-07-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 114 of the MYLK2 protein (p.Glu114Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYLK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 164494). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYLK2 protein function with a negative predictive value of 80%. 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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