ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.259G>A (p.Ala87Thr)

gnomAD frequency: 0.00001  dbSNP: rs753089175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227106 SCV001399446 uncertain significance Hypertrophic cardiomyopathy 1 2024-05-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 87 of the MYLK2 protein (p.Ala87Thr). This variant is present in population databases (rs753089175, gnomAD 0.03%). 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: 954614). 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.
Ambry Genetics RCV004032592 SCV002745470 uncertain significance not specified 2023-02-15 criteria provided, single submitter clinical testing The c.259G>A (p.A87T) 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 259, causing the alanine (A) at amino acid position 87 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics RCV004764958 SCV005374585 uncertain significance Hypertrophic cardiomyopathy no assertion criteria provided research

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