ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.50C>A (p.Thr17Lys)

gnomAD frequency: 0.00005  dbSNP: rs192056427
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601874 SCV000726050 likely benign not specified 2017-12-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001298570 SCV001487630 uncertain significance Hypertrophic cardiomyopathy 1 2023-09-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MYLK2-related conditions. This variant is present in population databases (rs192056427, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 17 of the MYLK2 protein (p.Thr17Lys). ClinVar contains an entry for this variant (Variation ID: 338040). 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.
Ambry Genetics RCV000601874 SCV003872501 uncertain significance not specified 2022-11-17 criteria provided, single submitter clinical testing The p.T17K variant (also known as c.50C>A), located in coding exon 1 of the MYLK2 gene, results from a C to A substitution at nucleotide position 50. The threonine at codon 17 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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.

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